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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Detalles Bibliográficos
Autores principales: Saeidian, Amir Hossein, Vahidnezhad, Hassan, Youssefian, Leila, Sotudeh, Soheila, Sargazi, Meisam, Zeinali, Sirous, Uitto, Jouni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825862/
https://www.ncbi.nlm.nih.gov/pubmed/31560841
http://dx.doi.org/10.1002/mgg3.975

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