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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Foilsithe in:Ann Rehabil Med
Main Authors: Kim, Yong Rok, Park, Jong Bum, Lee, Yung Jin, Hong, Mi Jin, Kim, Hyeong Tae, Kim, Hyon J.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Korean Academy of Rehabilitation Medicine 2017
Ábhair:
Case Report
Rochtain Ar Líne: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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