Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

Abstract Background Rubinstein–Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics‐associated gene, CREBBP. To date, there is no cohort st...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	Sha Yu, Bingbing Wu, Yanyan Qian, Ping Zhang, Yulan Lu, Xinran Dong, Qing Wang, Xuemei Zhao, Renchao Liu, Wenhao Zhou, Huijun Wang
Format:	Artigo
Sprog:	Inglês
Udgivet:	Wiley 2019-12-01
Serier:	Molecular Genetics & Genomic Medicine
Fag:	clinical exome sequencing CREBBP polydactyly Rubinstein–Taybi syndrome
Online adgang:	https://doi.org/10.1002/mgg3.1009
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!