Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with cong...

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Detalles Bibliográficos
Publicado en:Ann Rehabil Med
Main Authors: Kim, Yong Rok, Park, Jong Bum, Lee, Yung Jin, Hong, Mi Jin, Kim, Hyeong Tae, Kim, Hyon J.
Formato: Artigo
Idioma:Inglês
Publicado: Korean Academy of Rehabilitation Medicine 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5532359/
https://ncbi.nlm.nih.gov/pubmed/28758091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2017.41.3.505
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