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
Autores principales: Kim, Yong Rok, Park, Jong Bum, Lee, Yung Jin, Hong, Mi Jin, Kim, Hyeong Tae, Kim, Hyon J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532359/
https://www.ncbi.nlm.nih.gov/pubmed/28758091
http://dx.doi.org/10.5535/arm.2017.41.3.505

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