A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene

BACKGROUND: Gabriele‐de Vries syndrome (GADEVS), also known as YY1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to YY1 mutation characterized by mild‐to‐profound developmental delay (DD)/intellectual disability (ID), a wide spectrum of function...

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Detalles Bibliográficos
Autores principales: Tan, Li, Li, Ying, Liu, Fan, Huang, Yufeng, Luo, Sukun, Zhao, Peiwei, Gu, Weiyue, Lin, Jun, Zhou, Aifen, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077090/
https://www.ncbi.nlm.nih.gov/pubmed/33369188
http://dx.doi.org/10.1002/mgg3.1582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077090/
https://www.ncbi.nlm.nih.gov/pubmed/33369188
http://dx.doi.org/10.1002/mgg3.1582

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