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  • 1
    Language: English
    In: Cell, 2008-10-03, Vol.135 (1), p.37-48
    Description: Plasmacytoid dendritic cells (PDCs) represent a unique immune cell type specialized in type I interferon (IFN) secretion in response to viral nucleic acids. The molecular control of PDC lineage specification has been poorly understood. We report that basic helix-loop-helix transcription factor (E protein) E2-2/Tcf4 is preferentially expressed in murine and human PDCs. Constitutive or inducible deletion of murine E2-2 blocked the development of PDCs but not of other lineages and abolished IFN response to unmethylated DNA. Moreover, E2-2 haploinsufficiency in mice and in human Pitt-Hopkins syndrome patients was associated with aberrant expression profile and impaired IFN response of the PDC. E2-2 directly activated multiple PDC-enriched genes, including transcription factors involved in PDC development (SpiB, Irf8) and function (Irf7). These results identify E2-2 as a specific transcriptional regulator of the PDC lineage in mice and humans and reveal a key function of E proteins in the innate immune system.
    Subject(s): Adolescent ; Animals ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; Biological response modifiers ; CELLIMMUNO ; Child ; Child, Preschool ; Dendritic cells ; Dendritic Cells - immunology ; Dendritic Cells - metabolism ; Dendritic Cells/immunology/metabolism ; DNA binding proteins ; Humans ; HUMDISEASE ; Hyperventilation - immunology ; Immunity, Innate ; Intellectual Disability - immunology ; Interferon ; Interferons - immunology ; Mental Retardation/immunology ; Mice ; Nerve Tissue Proteins - immunology ; Nucleic acids ; Syndrome ; TCF Transcription Factors - immunology ; Transcription Factor 4 ; Transcription Factor 7-Like 2 Protein ; Transcription Factors
    ISSN: 0092-8674
    ISSN: 1097-4172
    E-ISSN: 1097-4172
    Source: Backfile Package - All of Back Files EBS [ALLOFBCKF]
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  • 2
    Language: English
    In: European journal of human genetics : EJHG, 2015, Vol.23 (9), p.1176-1185
    Description: Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families. Sixteen patients were molecularly diagnosed by Sanger sequencing of ANKRD11, one familial case and three sporadic patients were diagnosed through whole-exome sequencing and one patient was identified through genomewide array analysis. All patients were evaluated by a clinical geneticist. Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 patients and revealed besides the hallmark feature of macrodontia of central upper incisors, several additional dental anomalies as oligodontia, talon cusps and macrodontia of other teeth. Three-dimensional (3D) stereophotogrammetry was performed in 14 patients and 3D analysis of patients compared with controls showed consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face. Many patients exhibited neurobehavioural problems, such as autism spectrum disorder or hyperactivity. One-third of patients presented with (conductive) hearing loss. Congenital heart defects, velopharyngeal insufficiency and hip anomalies were less frequent. On the basis of our observations, we recommend cardiac assessment in children and regular hearing tests in all individuals with a molecular diagnosis of KBG syndrome. As ANKRD11 is a relatively common gene in which sequence variants have been identified in individuals with neurodevelopmental disorders, it seems an important contributor to the aetiology of both sporadic and familial cases
    Subject(s): Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Adolescent ; Adult ; Autism ; Autism Spectrum Disorder - complications ; Autism Spectrum Disorder - diagnosis ; Autism Spectrum Disorder - genetics ; Autism Spectrum Disorder - pathology ; Bone Diseases, Developmental - complications ; Bone Diseases, Developmental - diagnosis ; Bone Diseases, Developmental - genetics ; Bone Diseases, Developmental - pathology ; Child ; Child, Preschool ; Children ; Chromosomes, Human, Pair 16 ; DNA Mutational Analysis ; Exome ; Facies ; Female ; Gene Deletion ; Gene Expression ; Genetics ; Genomes ; Genotype ; Genotype & phenotype ; Hearing ; Hearing loss ; Hip ; Humans ; Hyperactivity ; Incisors ; Intellectual Disability - complications ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Intellectual Disability - pathology ; Male ; Medicin och hälsovetenskap ; Middle Aged ; Mutation ; Neurodevelopmental disorders ; Nose ; Patients ; Phenotype ; Phenotypes ; Phenotyping ; Repressor Proteins - genetics ; Teeth ; Tooth Abnormalities - complications ; Tooth Abnormalities - diagnosis ; Tooth Abnormalities - genetics ; Tooth Abnormalities - pathology
    ISSN: 1018-4813
    ISSN: 1476-5438
    E-ISSN: 1476-5438
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: Alma/SFX Local Collection
    Source: SWEPUB Freely available online
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  • 3
    Language: English
    In: The journal of clinical endocrinology and metabolism, 2019-06-19, Vol.104 (8), p.3157-3171
    Description: Context The phenotype and response to GH treatment of children with an IGF1R defect is insufficiently known. Objective To develop a clinical score for selecting children with short stature for genetic testing and evaluate the efficacy of treatment. Design and Setting Case series with an IGF1R defect identified in a university genetic laboratory. Patients and Interventions Of all patients with sufficient clinical data, 18 had (likely) pathogenic mutations (group 1) and 7 had 15q deletions including IGF1R (group 2); 19 patients were treated with GH. Main Outcome Measures Phenotype and response to GH treatment. Results In groups 1 and 2, mean (range) birth weight, length, and head circumference (HC) SD scores (SDSs) were -2.1 (-3.7 to -0.4), -2.7 (-5.0 to -1.0), and -1.6 (-3.0 to 0.0), respectively. At presentation, height, HC, and serum IGF-1 SDSs were -3.0 (-5.5 to -1.7), -2.5 (-4.2 to -0.5), and +1.2 (-1.3 to 3.2), respectively. Feeding problems were reported in 15 of 19 patients. A clinical score with 76% sensitivity is proposed. After 3 years of GH treatment [1.1 (0.2) mg/m 2 /d] height gain in groups 1 (n = 12) and 2 (n = 7) was 0.9 SDS and 1.3 SDS (at a mean IGF-1 of 3.5 SDS), less than reported for small for gestational age (1.8 SDS). Conclusion A clinical score encompassing birth weight and/or length, short stature, microcephaly, and IGF-1 is useful for selecting patients for IGF1R analysis. Feeding problems are common and the growth response to GH treatment is moderate.
    Subject(s): Abridged Index Medicus ; Adolescent ; Adult ; Birth weight ; Body Height - drug effects ; Child ; Child, Preschool ; Children ; Defects ; Endocrinology & Metabolism ; Female ; Genetic screening ; Gestational age ; Growth hormone ; Human Growth Hormone - therapeutic use ; Humans ; Infant, Small for Gestational Age - growth & development ; Insulin-like growth factor I ; Insulin-Like Growth Factor I - analysis ; Insulin-like growth factors ; Life Sciences & Biomedicine ; Male ; Microencephaly ; Mutation ; Patients ; Phenotype ; Phenotypes ; Physical growth ; Receptor, IGF Type 1 - genetics ; Retrospective Studies ; Science & Technology ; Small-for-gestational age ; Young Adult
    ISSN: 0021-972X
    E-ISSN: 1945-7197
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
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  • 4
    Language: English
    In: Archives of otolaryngology--head & neck surgery, 2019-04-04, Vol.145 (5), p.431-443
    Description: IMPORTANCE: Imaging used to determine the cause of unilateral sensorineural hearing loss (USNHL) in children is often justified by the high likelihood of detecting abnormalities, which implies that these abnormalities are associated with hearing loss and that imaging has a positive contribution to patient outcome or well-being by providing information on the prognosis, hereditary factors, or cause of hearing loss. OBJECTIVES: To evaluate the diagnostic yield of computed tomography (CT) and magnetic resonance imaging (MRI) in children with isolated unexplained USNHL and investigate the clinical relevance of these findings. EVIDENCE REVIEW: Cochrane Library, Embase, PubMed, and Web of Science databases were searched for articles published from 1978 to 2017 on studies of children with USNHL who underwent CT and/or MRI of the temporal bone. Two authors (F.G.R. and E.N.B.P.) independently extracted information on population characteristics, imaging modality, and the prevalence of abnormalities and assessed the studies for risk of bias. Eligibility criteria included studies with 20 or more patients with USNHL who had CT and/or MRI scans, a population younger than 18 years, and those published in English. MAIN OUTCOMES AND MEASURES: The pooled prevalence with 95% CI of inner ear abnormalities grouped according to finding and imaging modality. FINDINGS: Of 1562 studies, 18 were included with a total of 1504 participants included in the analysis. Fifteen studies were consecutive case studies and 3 were retrospective cohort studies. The pooled diagnostic yield for pathophysiologic relevant findings in patients with unexplained USNHL was 37% for CT (95% CI, 25%-48%) and 35% for MRI (95% CI, 22%-49%). Cochleovestibular abnormalities were found with a pooled frequency of 19% for CT (95% CI, 14%-25%) and 16% for MRI (95% CI, 7%-25%). Cochlear nerve deficiency and associated cochlear aperture stenosis had a pooled frequency of 16% for MRI (95% CI, 3%-29%) and 44% for CT (95% CI, 36%-53%), respectively. Enlarged vestibular aqueduct (EVA) was detected with a pooled frequency of 7% for CT and 12% for MRI in children with USNHL. CONCLUSIONS AND RELEVANCE: Imaging provided insight into the cause of hearing loss in a pooled frequency of about 35% to 37% in children with isolated unexplained USNHL. However, none of these findings had therapeutic consequences, and imaging provided information on prognosis and hereditary factors only in a small proportion of children, namely those with EVA. Thus, there is currently no convincing evidence supporting a strong recommendation for imaging in children who present with USNHL. The advantages of imaging should be carefully balanced against the drawbacks during shared decision making.
    Subject(s): Child ; Child, Preschool ; Children & youth ; Hearing impairment ; Hearing Loss, Sensorineural - diagnostic imaging ; Hearing Loss, Sensorineural - etiology ; Hearing Loss, Sensorineural - therapy ; Hearing Loss, Unilateral - diagnostic imaging ; Hearing Loss, Unilateral - etiology ; Hearing Loss, Unilateral - therapy ; Humans ; Life Sciences & Biomedicine ; Magnetic Resonance Imaging ; Medical imaging ; Medical treatment ; Online First ; Original Investigation ; Otorhinolaryngology ; Research ; Science & Technology ; Surgery ; Tomography ; Tomography, X-Ray Computed
    ISSN: 2168-6181
    E-ISSN: 2168-619X
    E-ISSN: 1538-361X
    Source: American Medical Association Journals Backfile (through 1997)
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: Alma/SFX Local Collection
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  • 5
    Language: English
    In: Hormone research in paediatrics, 2020-06, Vol.92 (6), p.372-381
    Description: Introduction: Short stature homeobox-containing gene (SHOX) haploinsufficiency is associated with short stature, Madelung deformity and mesomelia. Current clinical screening tools are based on patients with intragenic variants or deletions. However, recent discoveries showed that deletions of the enhancer elements are quite common. The majority of these patients show less body disproportion and respond better to recombinant human growth hormone treatment. We redefined clinical criteria for genetic analysis to facilitate detection of the full spectrum of SHOX haploinsufficiency. Methods: We analyzed 51 children with SHOX variants or deletions and 25 children with a deletion in its enhancer region. Data were compared to 277 children referred for suspicion of growth failure without endocrine or genetic pathology. Results: Only half of the patients with an enhancer region deletion fulfilled any of the current screening criteria. We propose new clinical criteria based on sitting height to height ratio 〉1 SDS or arm span ≥3 cm below height, with a sensitivity of 99%. When these criteria are combined with obligatory short stature, the sensitivity to detect SHOX haploinsufficiency is 68.1%, the specificity 80.6%, and the number needed to screen 21 patients. Conclusion: Novel clinical criteria for screening for SHOX haploinsufficiency allow the detection of patients within the full genetic spectrum, that is, intragenic variants and enhancer region deletions.
    Subject(s): Clinical features ; Gene enhancer mutation ; Genetic screening ; Research Article ; Short stature homeobox-containing gene deficiency
    ISSN: 1663-2818
    E-ISSN: 1663-2826
    Source: Alma/SFX Local Collection
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  • 6
    Language: English
    In: American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2685-2690
    Description: The RASopathies comprise a group of clinically overlapping developmental syndromes the common pathogenetic basis of which is dysregulated signal flow through the RAS‐MAPK pathway. Mutations in several components or modifiers of the pathway have been identified in Noonan syndrome and related disorders. Over the past years copy number variants (CNVs) encompassing RAS pathway genes (PTPN11, RAF1, MEK2, or SHOC2) have been reported in children with developmental syndromes. These observations raised speculations that the associated phenotypes represent RASopathies, implying that the increased or reduced expression of the respective RAS pathway component and a consecutive dysregulation of RAS pathway signalling is responsible for the clinical picture. Herein, we present two individuals and three of their relatives harboring duplications of either 3p25.2 including the RAF1 locus or 19p13.3 including the MEK2 locus. Duplication carriers exhibited variable clinical phenotypes including non‐specific facial dysmorphism, short stature, and learning difficulties. A careful review of the literature supported the impression that phenotypes associated with CNVs including RAS pathway genes commonly share non‐specific symptoms with RASopathies, while the characteristic “gestalt” is lacking. Considering the known molecular pathogenesis of RASopathies, it is questionable that a modest increase in the expression of a functionally normal signaling component can mimic the effects of a qualitatively abnormal (hyperactive) mutant protein. We thus argue that current empirical and biological evidence is still insufficient to allow the conclusion that an altered copy number of a RAS pathway component is indeed the mechanism that is critical for the phenotype associated with CNVs including RASopathy genes. © 2015 Wiley Periodicals, Inc.
    Subject(s): Adolescent ; Adult ; cardio-facio-cutaneous syndrome ; Child, Preschool ; copy number variations ; DNA Copy Number Variations - genetics ; Facies ; Female ; Genes ; Genes, ras ; Genetic aspects ; Humans ; Male ; Middle Aged ; Noonan syndrome ; Noonan syndrome with multiple lentigines ; Phenotype ; ras Proteins - genetics ; RASopathy ; Signal Transduction - genetics
    ISSN: 1552-4825
    E-ISSN: 1552-4833
    Source: Hellenic Academic Libraries Link
    Source: Wiley Online Library All Journals
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  • 7
    Language: English
    In: American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.431-436
    Description: Catel‐Manzke syndrome, also known as micrognathia‐digital‐syndrome, is a rare autosomal recessive disorder characterized by the combination of the two cardinal features Pierre‐Robin sequence and bilateral hyperphalangy leading to ulnar clinodactyly (ulnar curvature of the phalanges) and radial deviation (radial angulation at the metacarpophalangeal joint) of the index fingers. Individuals without one of these major hallmarks or with additional hand malformations have been described as atypical or Catel‐Manzke‐like syndrome. Biallelic TGDS pathogenic variants have thus far been detected in eight individuals with typical Catel‐Manzke syndrome and in one fetus with additional features. Here we report on two individuals with TGDS pathogenic variants who presented with mild radial deviation and ulnar clinodactyly of the index fingers but without radiologic signs of hyperphalangy. Furthermore, both individuals have disproportionate short stature, a feature that has not yet been associated with Catel‐Manzke syndrome. Our data broaden the phenotypic spectrum of TGDS‐associated Catel‐Manzke syndrome and expand the indication for diagnostic testing.
    Subject(s): Abnormalities, Multiple - genetics ; Abnormalities, Multiple - physiopathology ; Adolescent ; Alleles ; Catel‐Manzke syndrome ; Child ; Child, Preschool ; Female ; Fetuses ; Hand Deformities, Congenital - diagnosis ; Hand Deformities, Congenital - genetics ; Hand Deformities, Congenital - physiopathology ; Hereditary diseases ; Humans ; Hydro-Lyases - genetics ; hyperphalangy ; Male ; Manzke dysostosis ; Mutation - genetics ; Pierre Robin Syndrome - diagnosis ; Pierre Robin Syndrome - genetics ; Pierre Robin Syndrome - physiopathology ; Pierre‐Robin sequence ; Polydactyly - genetics ; Polydactyly - physiopathology ; short stature ; TGDS
    ISSN: 1552-4825
    E-ISSN: 1552-4833
    Source: Hellenic Academic Libraries Link
    Source: Wiley Online Library All Journals
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  • 8
    Language: English
    In: BMJ case reports, 2017, Vol.2017
    Description: For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the SHANK3 gene. Its core psychopathological phenotype comprises symptoms from the bipolar spectrum for which generally treatment with a mood-stabilising anticonvulsant in combination with an atypical antipsychotic seems to be most effective. In addition to two elsewhere published adolescent patients, we here describe in detail the history of an adult male patient with PMS caused by a SHANK3 mutation in whom successive treatment regimens with antipsychotics and mood-stabilising anticonvulsants were all ineffective. Ultimately, addition of lithium to existing olanzapine therapy led to enduring stabilisation of mood and behaviour.
    Subject(s): 1523 ; 159 ; 31-50 years ; Adult ; Alcohol ; Anticonvulsants ; Antipsychotic Agents - therapeutic use ; Autism ; Behavior ; Benzodiazepines - therapeutic use ; Bipolar disorder ; Chromosome Deletion ; Chromosome Disorders - drug therapy ; Chromosome Disorders - genetics ; Chromosomes, Human, Pair 22 - genetics ; Drug Therapy, Combination ; Europe (West) ; genetics ; Genotype & phenotype ; Humans ; Intellectual Disability - drug therapy ; Intellectual Disability - genetics ; Lithium Compounds - therapeutic use ; Male ; Medical imaging ; Metabolism ; Mutation ; Nerve Tissue Proteins - genetics ; Patients ; psychiatry ; Psychotropic drugs ; Rare Disease ; Sleep ; White
    ISSN: 1757-790X
    E-ISSN: 1757-790X
    Source: PubMed Central
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  • 9
    Language: English
    In: American journal of medical genetics. Part C, Seminars in medical genetics, 2019, Vol.181 (4), p.557-564
    Description: CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely pathogenic CHD8 variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p 〈 .01). All patients presented with intellectual disability, with 85% in the mild or moderate range, and 85% had a height and/or head circumference 〉/=2 standard deviations above the mean, meeting our clinical criteria for overgrowth. Behavioral problems were reported in the majority of patients (78%), with over half (56%) either formally diagnosed with an autistic spectrum disorder or described as having autistic traits. Additional clinical features included neonatal hypotonia (33%), and less frequently seizures, pes planus, scoliosis, fifth finger clinodactyly, umbilical hernia, and glabellar hemangioma (〈/=15% each). These results suggest that, in addition to its established link with autism and intellectual disability, CHD8 causes an overgrowth phenotype, and should be considered in the differential diagnosis of patients presenting with increased height and/or head circumference in association with intellectual disability.
    Subject(s): Adolescent ; Adult ; Autism ; Cadherins - genetics ; CHD8 ; Child ; Child, Preschool ; Differential diagnosis ; Female ; Genetics & Heredity ; Genotype & phenotype ; Growth Disorders - genetics ; Hemangioma ; Hernia ; Humans ; Hypotonia ; Infant ; Intellectual disabilities ; intellectual disability ; Intellectual Disability - genetics ; Life Sciences & Biomedicine ; macrocephaly ; Male ; Neonates ; overgrowth ; Phenotype ; Phenotypes ; Science & Technology ; Scoliosis ; Seizures ; Syndrome ; Young Adult
    ISSN: 1552-4868
    E-ISSN: 1552-4876
    Source: Hellenic Academic Libraries Link
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: Wiley Online Library All Journals
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  • 10
    Language: English
    In: American journal of medical genetics. Part A, 2018, Vol.176 (4), p.862-876
    Description: In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome sequencing using a panel for intellectual disability in all but one individual, in whom Sanger sequencing was performed upon clinical recognition of the entity. The main characteristics of the patients are developmental delay (90%), autistic behavior (65%), short stature (42%), and microcephaly (43%). Medical problems include feeding problems (75%), vision (50%), and hearing (54%) impairments, recurrent upper airway infections (42%), and epilepsy (21%). Major malformations are less common except for cryptorchidism (46% of males), and cerebral anomalies (70%). Individuals with variants between bp 5,595 and 5,614 of CREBBP show a specific phenotype (ptosis, telecanthi, short and upslanted palpebral fissures, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum). 3D face shape demonstrated resemblance to individuals with a duplication of 16p13.3 (the region that includes CREBBP), possibly indicating a gain of function. The other affected individuals show a less specific phenotype. We conclude that there is now more firm evidence that variants in these specific regions of CREBBP and EP300 result in a phenotype that differs from RSTS, and that this phenotype may be heterogeneous
    Subject(s): Adolescent ; Alleles ; Autism ; CBP ; Child ; Child, Preschool ; CREB-Binding Protein - genetics ; CREBBP ; Cryptorchidism ; DNA sequencing ; E1A-Associated p300 Protein - genetics ; EP300 ; Epilepsy ; exome sequencing ; Exons ; Facies ; Female ; Genetic aspects ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; genotype–phenotype correlation ; Humans ; Imaging, Three-Dimensional ; Infant ; intellectual disability ; Male ; Microencephaly ; Models, Anatomic ; Mutation ; Nose ; Nucleotide sequencing ; Phenotype ; Phenotypes ; Respiratory tract ; Rubinstein-Taybi Syndrome - diagnosis ; Rubinstein-Taybi Syndrome - genetics
    ISSN: 1552-4825
    E-ISSN: 1552-4833
    Source: Hellenic Academic Libraries Link
    Source: Wiley Online Library All Journals
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