Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen ‐de Vries syndrome

ConclusionThis is the first published case of Jansen ‐de Vries syndrome in Chinese population, which will help us to enrich the clinical spectrum of this syndrome.

Source: Molecular Genetics & Genomic Medicine - January 7, 2020 Category: Genetics & Stem Cells Authors: Zhuoguang Li, Caiqi Du, Cai Zhang, Mini Zhang, Yanqin Ying, Yan Liang, Xiaoping Luo Tags: CLINICAL REPORT Source Type: research