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  • 1
    Language: English
    In: European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1244-1247
    Description: We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy was present in all individuals. We suggest that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid-progeroid-lipodystrophy syndrome would be appropriate.
    Subject(s): Adolescent ; Adult ; Child ; Child, Preschool ; Congenital diseases ; Databases ; Female ; Fibrillin ; Fibrillin-1 - genetics ; Genes ; Genetic Pleiotropy ; Genotype & phenotype ; Genotypes ; Humans ; Insulin ; Lipodystrophy ; Lipodystrophy - diagnosis ; Lipodystrophy - genetics ; Male ; Marfan syndrome ; Marfan Syndrome - diagnosis ; Marfan Syndrome - genetics ; Marfan's syndrome ; Mutation ; Myopia ; Patients ; Phenotypes ; Progeria - diagnosis ; Progeria - genetics ; Viewpoint
    ISSN: 1018-4813
    E-ISSN: 1476-5438
    Source: PubMed Central
    Source: Alma/SFX Local Collection
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  • 2
    Language: English
    In: American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1369-1373
    Description: Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello–Carey Syndrome (T‐CS). In patient 1, the recurrent variant c.1703C〉T; p.(P568L) was identified when reconsidering X‐linked de novo heterozygous variants in exome sequencing data. In patient 2, the DDX3X variant c.1600C〉G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T‐CS.
    Subject(s): Agenesis of Corpus Callosum - diagnosis ; Agenesis of Corpus Callosum - genetics ; Agenesis of Corpus Callosum - physiopathology ; Child ; Child, Preschool ; Craniofacial Abnormalities - diagnosis ; Craniofacial Abnormalities - genetics ; Craniofacial Abnormalities - physiopathology ; DDX3X ; DEAD-box RNA Helicases - genetics ; Exome - genetics ; exome sequencing ; Female ; Genes, X-Linked ; Genotype & phenotype ; Heart Defects, Congenital - diagnosis ; Heart Defects, Congenital - genetics ; Heart Defects, Congenital - physiopathology ; Heterozygote ; Humans ; Intellectual disabilities ; intellectual disability ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; Limb Deformities, Congenital - diagnosis ; Limb Deformities, Congenital - genetics ; Limb Deformities, Congenital - physiopathology ; Mutation ; Patients ; Phenotype ; Phenotypes ; Pierre Robin Syndrome - diagnosis ; Pierre Robin Syndrome - genetics ; Pierre Robin Syndrome - physiopathology ; Toriello–Carey syndrome ; Urogenital Abnormalities - diagnosis ; Urogenital Abnormalities - genetics ; Urogenital Abnormalities - physiopathology
    ISSN: 1552-4825
    E-ISSN: 1552-4833
    Source: Hellenic Academic Libraries Link
    Source: Wiley Online Library All Journals
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  • 3
    Language: English
    In: Human mutation, 2013-02, Vol.34 (2), p.283-286
    Description: ABSTRACT Smith–McCort dysplasia (SMC) is a rare autosomal recessive spondylo‐epi‐metaphyseal dysplasia with skeletal features identical to those of Dyggve–Melchior–Clausen syndrome (DMC) but with normal intelligence and no microcephaly. Although both syndromes were shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN, a few SMC patients remained negative in DYM mutation screening. Recently, autozygosity mapping and exome sequencing in a large SMC family have allowed the identification of a missense mutation in RAB33B, another Golgi protein involved in retrograde transport of Golgi vesicles. Here, we report a novel RAB33B mutation in a second SMC case that leads to a marked reduction of the protein as shown by Western blot and immunofluorescence. These data confirm the genetic heterogeneity of SMC dysplasia and highlight the role of Golgi transport in the pathogenesis of SMC and DMC syndromes. Smith‐McCort dysplasia is a disorder with skeletal features identical to those of Dyggve‐Melchior‐Clausen syndrome but with normal intelligence and no microcephaly. Although both are associated with mutations in the Golgi protein DYMECLIN, genetic heterogeneity has been suspected for SMC. The study describes an SMC patient with a loss‐of‐function mutation in the GTP‐binding domain of RAB33B, which is involved in Golgi trafficking. These data confirm the genetic heterogeneity of SMC and highlight the role of Golgi transport in the pathogenesis of SMC/DMC.
    Subject(s): Dwarfism - genetics ; Dwarfism - physiopathology ; Dyggve-Melchior-Clausen syndrome ; DYMECLIN ; Dysplasia ; Exome ; Genetic aspects ; Genetic Diseases, X-Linked - genetics ; Genetic Diseases, X-Linked - physiopathology ; Genetic Heterogeneity ; Genetics ; Golgi apparatus ; Golgi Apparatus - genetics ; Golgi Apparatus - metabolism ; Humans ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; Life Sciences ; Male ; Mutation ; Neurons and Cognition ; Osteochondrodysplasias - congenital ; Osteochondrodysplasias - diagnosis ; Osteochondrodysplasias - genetics ; Osteochondrodysplasias - physiopathology ; Phenotype ; Proteins ; Proteins - genetics ; Proteins - metabolism ; rab GTP-Binding Proteins - genetics ; rab GTP-Binding Proteins - metabolism ; RAB33B ; Sequence Analysis ; Smith-McCort dysplasia ; Young Adult
    ISSN: 1059-7794
    E-ISSN: 1098-1004
    Source: Hellenic Academic Libraries Link
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  • 4
    Language: English
    In: American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1251-1258
    Description: Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of forelimbs produced during voluntary movements. To date, only a single SCN4A variant has been suggested to cause ET. In continuation of the previous report on the association between SCN4A and ET in a family from Spain, we validated the pathogenicity of a novel SCN4A variant and its involvement in ET in a second family affected by this disease. We recruited a Kurdish family with four affected members manifesting congenital tremor. Using whole‐exome sequencing, we identified a novel missense variant in SCN4A, NM_000334.4:c.4679C〉T; p.(Pro1560Leu), thus corroborating SCN4A's role in ET. The residue is highly conserved across vertebrates and the substitution is predicted to be pathogenic by various in silico tools. Western blotting and immunocytochemistry performed in cells derived from one of the patients showed reduced immunoreactivity of SCN4A as compared to control cells. The study provides supportive evidence for the role of SCN4A in the etiology of ET and expands the phenotypic spectrum of channelopathies to this neurological disorder.
    Subject(s): Animals ; Channelopathies ; Congenital diseases ; Consanguinity ; essential tremor ; Essential Tremor - genetics ; Etiology ; Genetic disorders ; haploinsufficiency ; Humans ; Immunocytochemistry ; Immunoreactivity ; Isometric ; Kurds ; Medical research ; Medicine, Experimental ; missense variant ; Mutation, Missense - genetics ; NAV1.4 Voltage-Gated Sodium Channel - genetics ; Nervous system diseases ; Neurological disorders ; Pathogenicity ; Pedigree ; reduced expression ; SCN4A ; Sodium channels ; Tremor ; Tremor (Muscular contraction) ; Western blotting
    ISSN: 1552-4825
    E-ISSN: 1552-4833
    Source: Hellenic Academic Libraries Link
    Source: Wiley Online Library All Journals
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  • 5
    Language: English
    In: Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.572-581
    Description: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregating as an autosomal dominant trait. Screening a cohort of 52 unrelated AOS subjects, we detected 8 additional unique NOTCH1 mutations, including 3 de novo amino acid substitutions, all within the ligand-binding domain. Congenital heart anomalies were noted in 47% (8/17) of NOTCH1-positive probands and affected family members. In leukocyte-derived RNA from subjects harboring NOTCH1 extracellular domain mutations, we observed significant reduction of NOTCH1 expression, suggesting instability and degradation of mutant mRNA transcripts by the cellular machinery. Transient transfection of mutagenized NOTCH1 missense constructs also revealed significant reduction in gene expression. Mutant NOTCH1 expression was associated with downregulation of the Notch target genes HEY1 and HES1, indicating that NOTCH1-related AOS arises through dysregulation of the Notch signaling pathway. These findings highlight a key role for NOTCH1 across a range of developmental anomalies that include cardiac defects and implicate NOTCH1 haploinsufficiency as a likely molecular mechanism for this group of disorders.
    Subject(s): Adams-Oliver syndrome ; Adolescent ; Adult ; Base Sequence ; Child ; congenital ; Ectodermal Dysplasia - genetics ; Exome - genetics ; Family Health ; Female ; Gene Expression ; Genetic Predisposition to Disease - genetics ; genetics ; Haploinsufficiency ; heart defects ; Heart Defects, Congenital - genetics ; human ; Humans ; Limb Deformities, Congenital - genetics ; Male ; Middle Aged ; Models, Molecular ; NOTCH1 ; Pedigree ; Protein Structure, Tertiary ; Receptor, Notch1 - chemistry ; Receptor, Notch1 - genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Scalp Dermatoses - congenital ; Scalp Dermatoses - genetics ; Sequence Analysis, DNA - methods ; Signal Transduction - genetics ; Young Adult
    ISSN: 1942-325X
    E-ISSN: 1942-3268
    Source: HighWire Press (Free Journals)
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
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  • 6
    Language: English
    In: Clinical genetics, 2020-02, Vol.97 (2), p.362-369
    Description: Aymé‐Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these features have not been assessed systematically. Expanding the series with four additional patients, here we provide a more accurate delineation of the molecular aspects and clinical phenotype, particularly focusing on the skeletal features characterizing this disorder. Apart from previously reported malar flattening and joint limitations, we document that carpal/tarsal and long bone defects, and hip dysplasia occur in affected subjects more frequently than formerly appreciated. Left panel, A, clustered Aymé‐Gripp syndrome (AYGRPS)‐causing MAF changes within the transactivation domain (TAD): C‐terminal DNA‐binding domain, “extended homology” (EHR), “basic motif” (BR), and leucine‐zipper (LZ) regions are shown. Left panel, B, amino acid alignments of the GSK3 motif among MAF orthologues. The priming Ser70 and four tandemly arranged phosphorylatable serine/threonine residues (Ser66, Thr62, Thr58, and Ser54) within GSK3 recognition region are displayed in black, while affected residues identified in this study are shown in red. Right panel, C, electropherograms of identified MAF variants found in the four affected subjects of this study. Right panel (below): delineation of skeletal findings characterizing AYGRPS (1c‐4f); dental abnormalities (3d), nail dystrophy (3e), and shortening of the fourth metatarsal (4c) are also shown.
    Subject(s): Adolescent ; Adult ; Aymé‐Gripp syndrome ; Bone (long) ; bone defects ; Bone dysplasia ; Cataract - genetics ; Cataract - pathology ; Cataracts ; Child ; Child, Preschool ; Facies ; Female ; Genetic Predisposition to Disease ; Growth Disorders - genetics ; Growth Disorders - pathology ; Hearing loss ; Hearing Loss, Sensorineural - genetics ; Hearing Loss, Sensorineural - pathology ; Hip ; Humans ; Infant ; Intellectual disabilities ; Intellectual Disability - genetics ; Intellectual Disability - pathology ; MAF ; Male ; Missense mutation ; Musculoskeletal Abnormalities - genetics ; Musculoskeletal Abnormalities - pathology ; Mutation, Missense - genetics ; Phenotypes ; Proto-Oncogene Proteins c-maf - genetics ; skeletal dysplasia ; Young Adult
    ISSN: 0009-9163
    E-ISSN: 1399-0004
    Source: Hellenic Academic Libraries Link
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  • 7
    Language: English
    In: BMJ Open, 2013, Vol.3 (3), p.e001917
    Description: Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures. Design Prospective analysis. Patients 19 Caucasian patients with typical features of WS underwent stepwise investigation of PAX3 and MITF. When point mutations and small insertions/deletions were excluded by direct sequencing, copy number analysis by multiplex ligation-dependent probe amplification was performed to detect larger deletions and duplications. Clinical data and photographs were collected to facilitate genotype–phenotype analyses. Setting All analyses were performed in a large German laboratory specialised in genetic diagnostics. Results 15 novel and 4 previously published heterozygous mutations in PAX3 and MITF were identified. Of these, six were large deletions or duplications that were only detectable by copy number analysis. All patients with PAX3 mutations had typical phenotype of WS with dystopia canthorum (WS1), whereas patients with MITF gene mutations presented without dystopia canthorum (WS2). In addition, one patient with bilateral hearing loss and blue eyes with iris stroma dysplasia had a de novo missense mutation (p.Arg217Ile) in MITF. MITF 3-bp deletions at amino acid position 217 have previously been described in patients with Tietz syndrome (TS), a clinical entity with hearing loss and generalised hypopigmentation. Conclusions On the basis of these findings, we conclude that sequencing and copy number analysis of both PAX3 and MITF have to be recommended in the routine molecular diagnostic setting for patients, WS1 and WS2. Furthermore, our genotype–phenotype analyses indicate that WS2 and TS correspond to a clinical spectrum that is influenced by MITF mutation type and position.
    Subject(s): 1506 ; 1689 ; 1697 ; 1719 ; Amino acids ; Deoxyribonucleic acid ; DNA ; Genes ; Genetics and Genomics ; Genotype & phenotype ; Hearing impairment ; Mutation ; Patients ; Transcription factors
    ISSN: 2044-6055
    E-ISSN: 2044-6055
    Source: HighWire Press (Free Journals)
    Source: PubMed Central
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  • 8
    Language: English
    In: American Journal of Medical Genetics Part A, 2010-11, Vol.152A (11), p.2749-2755
    Description: We report on a 25‐year‐old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF‐CAVIN, PPARG, LMNB2) or with Hutchinson–Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma‐like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421–1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann–Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome. © 2010 Wiley‐Liss, Inc.
    Subject(s): Adolescent ; Adult ; Biological and medical sciences ; Body Fat Distribution ; Child ; Child, Preschool ; Dermatology ; Electric Impedance ; FBN1 mutation ; Female ; Fibrillin-1 ; Fibrillins ; Frameshift Mutation - genetics ; Humans ; Infant, Newborn ; lipodystrophy ; Lipodystrophy - complications ; Lipodystrophy - genetics ; Magnetic Resonance Imaging ; Marfan syndrome ; Marfan Syndrome - complications ; Marfan Syndrome - genetics ; Marfan Syndrome - physiopathology ; Medical genetics ; Medical sciences ; Microfilament Proteins - genetics ; neonatal progeroid syndrome ; Pregnancy ; Progeria - complications ; Progeria - genetics ; Protein-Serine-Threonine Kinases - genetics ; Receptors, Transforming Growth Factor beta - genetics ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis ; Skin involvement in other diseases. Miscellaneous. General aspects ; Young Adult
    ISSN: 1552-4825
    ISSN: 0148-7299
    ISSN: 1096-8628
    ISSN: 1552-4833
    E-ISSN: 1096-8628
    E-ISSN: 1552-4833
    Source: Hellenic Academic Libraries Link
    Source: Wiley Online Library All Journals
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  • 9
    Language: English
    In: American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.290-301
    Description: Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, tapering fingers with brachytelephalangy, clinodactyly and hypoplastic nails, short toes with hypoplastic nails, and linear skin hyperpigmentation. In adolescent or older patients, this phenotype overlaps but is not identical with Borjeson–Forssman–Lehmann syndrome in males, caused by X‐linked recessive mutations in PHF6. In younger girls there seems to be a striking phenotypic overlap with Coffin–Siris syndrome, which is characterized by intellectual disability, sparse hair and hypoplastic nails. This review will summarize and characterize the female phenotype caused by de novo aberrations in PHF6 and will discuss the overlapping and distinguishing features with Coffin–Siris syndrome. © 2014 Wiley Periodicals, Inc.
    Subject(s): Abnormalities, Multiple - etiology ; Abnormalities, Multiple - genetics ; BFLS ; Borjeson-Forssman-Lehmann syndrome ; Carrier Proteins - genetics ; Child ; Coffin-Siris syndrome ; Epilepsy - etiology ; Epilepsy - genetics ; Face - abnormalities ; Female ; Fingers - abnormalities ; Genetic Association Studies ; Growth Disorders - etiology ; Growth Disorders - genetics ; Hand Deformities, Congenital - etiology ; Hand Deformities, Congenital - genetics ; Humans ; Hypogonadism - etiology ; Hypogonadism - genetics ; Intellectual Disability - etiology ; Intellectual Disability - genetics ; Mental Retardation, X-Linked - etiology ; Mental Retardation, X-Linked - genetics ; Micrognathism - etiology ; Micrognathism - genetics ; Nails, Malformed - genetics ; Neck - abnormalities ; Obesity - etiology ; Obesity - genetics ; Pedigree ; PHF6 ; Young Adult
    ISSN: 1552-4868
    E-ISSN: 1552-4876
    Source: Hellenic Academic Libraries Link
    Source: Wiley Online Library All Journals
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  • 10
    Language: English
    In: European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.726-733
    Description: Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous families with missense (c.157T〉C, p.(C53R)) or nonsense (c.657G〉A, p.(W219*)) mutations in BMPR1B. Homozygous affected individuals show clinical and radiographic findings consistent with ACD-type Grebe. Functional analysis of the missense mutation C53R revealed that the mutated receptor was partially located at the cell membrane. In contrast to the wild-type receptor, C53R mutation hindered the activation of the receptor by its ligand GDF5, as shown by reporter gene assay. Further, overexpression of the C53R mutation in an in vitro chondrogenesis assay showed no effect on cell differentiation, indicating a loss of function. The nonsense mutation (c.657G〉A, p.(W219*)) introduces a premature stop codon, which is predicted to be subject to nonsense-mediated mRNA decay, causing reduced protein translation of the mutant allele. A loss-of-function effect of both mutations causing recessive ACD-type Grebe is further supported by the mild brachydactyly or even non-penetrance of these mutations observed in the heterozygous parents. In contrast, dominant-negative BMPR1B mutations described previously are associated with autosomal-dominant brachydactyly-type A2.
    Subject(s): acromesomelic chondrodysplasia ; Adolescent ; Alleles ; Amino Acid Sequence ; Animals ; Bioinformatics ; BMPR1B ; Bone Morphogenetic Protein Receptors, Type I - genetics ; Brachydactyly ; Child, Preschool ; Chondrodystrophy ; Chondrogenesis ; Codon, Nonsense ; Consanguinity ; DNA Mutational Analysis ; Family Health ; Feet ; Female ; Genetic disorders ; Genetics ; genital development ; Genotype & phenotype ; Grebe syndrome ; Growth differentiation factor 5 ; Homozygote ; Humans ; Kinases ; Ligands ; Male ; Mice ; Missense mutation ; Molecular Sequence Data ; mRNA turnover ; Musculoskeletal Abnormalities - genetics ; Musculoskeletal Abnormalities - pathology ; Mutation ; Mutation, Missense ; NIH 3T3 Cells ; Nonsense mutation ; Nonsense-mediated mRNA decay ; Osteochondrodysplasias - genetics ; Osteochondrodysplasias - pathology ; Pedigree ; Phenotype ; Proteins ; Reporter gene ; Sequence Homology, Amino Acid ; Stop codon ; Translation ; Young Adult
    ISSN: 1018-4813
    E-ISSN: 1476-5438
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: Alma/SFX Local Collection
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