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

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

Abstract Background Jansen‐de Vries syndrome is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the last and penultimate exons of the PPM1D gene. It is characterized by delayed psychomotor development, intellectual disability with speech delay, behavioral abnor...

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Bibliographic Details
Main Authors: Zhuoguang Li, Caiqi Du, Cai Zhang, Mini Zhang, Yanqin Ying, Yan Liang, Xiaoping Luo
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
intellectual disability
Jansen‐de Vries syndrome
PPM1D
variant
Online Access:https://doi.org/10.1002/mgg3.1120

Internet

https://doi.org/10.1002/mgg3.1120

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