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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Detalles Bibliográficos
Autores principales: Li, Zhuoguang, Du, Caiqi, Zhang, Cai, Zhang, Mini, Ying, Yanqin, Liang, Yan, Luo, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057113/
https://www.ncbi.nlm.nih.gov/pubmed/31916397
http://dx.doi.org/10.1002/mgg3.1120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057113/
https://www.ncbi.nlm.nih.gov/pubmed/31916397
http://dx.doi.org/10.1002/mgg3.1120

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