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: Tags: ORIGINAL ARTICLE Source Type: research