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Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.897
Abstract: Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and neural systems.
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Keywords:
frameshift mutation;
heterozygous frameshift;
identified bcl11b;
mutation identified ... See more keywords
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Published in 2017 at "Genetic Testing and Molecular Biomarkers"
DOI: 10.1089/gtmb.2016.0421
Abstract: Objectives: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cau...
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Keywords:
heterozygous deletion;
deletion sox10;
waardenburg syndrome;
identification novel ... See more keywords
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Published in 2018 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.13939
Abstract: 1 Broyles LN, Van Beneden C, Beall B et al. Population-based study of invasive disease due to beta-hemolytic streptococci of groups other than A and B. Clin. Infect. Dis. 2009; 48: 706–12. 2 MacMahon HE,…
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Keywords:
exome sequencing;
revealing novo;
sequencing revealing;
heterozygous variant ... See more keywords
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Published in 2019 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-190425
Abstract: BACKGROUND The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause autosomal dominant myotonia or periodic paralysis, now…
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Keywords:
congenital myopathy;
myotonia;
novel novo;
novo heterozygous ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.828120
Abstract: Baraitser–Winter cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare autosomal-dominant developmental disorder associated with variants in the genes ACTB or ACTG1. It is characterized by brain malformations, a distinctive facial appearance, ocular coloboma, and intellectual…
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Keywords:
actb;
winter cerebrofrontofacial;
novo heterozygous;
variant ... See more keywords