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...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Sha Yu, Bingbing Wu, Yanyan Qian, Ping Zhang, Yulan Lu, Xinran Dong, Qing Wang, Xuemei Zhao, Renchao Liu, Wenhao Zhou, Huijun Wang
Format:	Article
Language:	English
Published:	Wiley 2019-12-01
Subjects:	clinical exome sequencing CREBBP polydactyly Rubinstein–Taybi syndrome
Online Access:	https://doi.org/10.1002/mgg3.1009