Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation

BACKGROUND: Mutations in the STAMBP gene, which encodes a deubiquitinating isopeptidase called STAM-binding protein, are related to global developmental delay, microcephaly, and capillary malformation. Owing to the limited number of reported cases, the functional and phenotypic characteristics of ST...

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Detalles Bibliográficos
Autores principales: Hu, Meixin, Li, Huiping, Huang, Zhuxi, Li, Dongyun, Xu, Ying, Xu, Qiong, Chen, Bo, Wang, Yi, Deng, Jingxin, Zhu, Ming, Feng, Weijun, Xu, Xiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399766/
https://www.ncbi.nlm.nih.gov/pubmed/36033615
http://dx.doi.org/10.3389/fnins.2022.963813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399766/
https://www.ncbi.nlm.nih.gov/pubmed/36033615
http://dx.doi.org/10.3389/fnins.2022.963813

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