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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...

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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

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