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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Detalhes bibliográficos
Publicado no: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 em: Korean Academy of Rehabilitation Medicine 2017
Assuntos:
Case Report
Acesso em linha: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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