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

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 study of C...

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Detalles Bibliográficos
Autores principales: Yu, Sha, Wu, Bingbing, Qian, Yanyan, Zhang, Ping, Lu, Yulan, Dong, Xinran, Wang, Qing, Zhao, Xuemei, Liu, Renchao, Zhou, Wenhao, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900364/
https://www.ncbi.nlm.nih.gov/pubmed/31637876
http://dx.doi.org/10.1002/mgg3.1009

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