A carregar...
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...
Na minha lista:
| Publicado no: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|