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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Ngā kaituhi matua:	Sha Yu, Bingbing Wu, Yanyan Qian, Ping Zhang, Yulan Lu, Xinran Dong, Qing Wang, Xuemei Zhao, Renchao Liu, Wenhao Zhou, Huijun Wang
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Wiley 2019-12-01
Rangatū:	Molecular Genetics & Genomic Medicine
Ngā marau:	clinical exome sequencing CREBBP polydactyly Rubinstein–Taybi syndrome
Urunga tuihono:	https://doi.org/10.1002/mgg3.1009
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

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

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