De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature

BACKGROUND: Bainbridge‐Ropers syndrome (BRPS, OMIM #615485) was first identified in 2013 by Bainbridge et al. and is a neurodevelopment disorder characterized by failure to thrive, facial dysmorphism and severe developmental delay. BRPS is caused by heterozygous loss‐of‐function (LOF) variants in th...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Qin, Zhang, Jianming, Jiang, Nan, Xie, Jiansheng, Yang, Jingxin, Zhao, Xiaoshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034677/
https://www.ncbi.nlm.nih.gov/pubmed/35276034
http://dx.doi.org/10.1002/mgg3.1924

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034677/
https://www.ncbi.nlm.nih.gov/pubmed/35276034
http://dx.doi.org/10.1002/mgg3.1924

Ejemplares similares