Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein –Taybi Syndrome kids with high frequency of polydactyly
ConclusionWe reported the genetic and clinical information of 18 RSTS patients from Chinese population with novelCREBBP variants. This study provides a new insight into RSTS and illustrates the value of applying CES which increases the diagnostic yields and enhances the clinical care of RSTS patients.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Sha Yu,
Bingbing Wu,
Yanyan Qian,
Ping Zhang,
Yulan Lu,
Xinran Dong,
Qing Wang,
Xuemei Zhao,
Renchao Liu,
Wenhao Zhou,
Huijun Wang Tags: ORIGINAL ARTICLE Source Type: research
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