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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Yu, Sha, Wu, Bingbing, Qian, Yanyan, Zhang, Ping, Lu, Yulan, Dong, Xinran, Wang, Qing, Zhao, Xuemei, Liu, Renchao, Zhou, Wenhao, Wang, Huijun
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900364/
https://ncbi.nlm.nih.gov/pubmed/31637876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1009
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