Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing

BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness. We have explored the genetic basis of HJMD in a large consanguineous family with 12 affected pati...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Saeidian, Amir Hossein, Vahidnezhad, Hassan, Youssefian, Leila, Sotudeh, Soheila, Sargazi, Meisam, Zeinali, Sirous, Uitto, Jouni
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825862/
https://ncbi.nlm.nih.gov/pubmed/31560841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.975
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