Nabais Sa‐de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report

BACKGROUND: Nabais Sa‐de Vries syndrome (NSDVS) is a newly identified neurodevelopmental disorder (NDD), characterized by mutations in the SPOP gene, which encodes the speckle‐type BTB/POZ protein. It is divided into two disease subtypes, according to patient facial features, which could be related...

Descripción completa

Detalles Bibliográficos
Autores principales: Hu, Wenjing, Fang, Hongjun, Peng, Yu, Li, Li, Liu, Shulei, Liao, Hongmei, Tang, Jingwen, Yi, Jurong, Liu, Qingqing, Xu, Li, Wu, Liwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747555/
https://www.ncbi.nlm.nih.gov/pubmed/36259278
http://dx.doi.org/10.1002/mgg3.2075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747555/
https://www.ncbi.nlm.nih.gov/pubmed/36259278
http://dx.doi.org/10.1002/mgg3.2075

Ejemplares similares