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

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 abnormalities...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Li, Zhuoguang, Du, Caiqi, Zhang, Cai, Zhang, Mini, Ying, Yanqin, Liang, Yan, Luo, Xiaoping
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057113/
https://ncbi.nlm.nih.gov/pubmed/31916397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1120
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