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Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder

BACKGROUND: Hao-fountain syndrome (HAFOUS) is a neurodevelopmental syndrome characterized by global developmental and severe language delays, behavioral abnormalities (including autism), and mild dysmorphic impairment of intellectual development. It is a dominant genetic disease caused by USP7 gene...

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Detalles Bibliográficos
Autores principales: Zheng, Hong, Mei, Shiyue, Li, Fuwei, Wei, Liwan, Wang, Yanchu, Huang, Jinrong, Zhang, Feng, Huang, Jia, Liu, Yanping, Gu, Weiyue, Liu, Hongyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9708884/
https://www.ncbi.nlm.nih.gov/pubmed/36466803
http://dx.doi.org/10.3389/fnmol.2022.970649