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Galloway–Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review

BACKGROUND: Galloway–Mowat syndrome type 3 (GAMOS3) is an extremely rare and severe autosomal-recessive disease characterized by early-onset nephrotic syndrome (NS), microcephaly and neurological impairment. Reported GAMOS cases have gradually increased since pathogenic OSGEP variants were identifie...

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Detalles Bibliográficos
Autores principales: Xu, Suhua, Hu, Lan, Yang, Lin, Wu, Bingbing, Cao, Yun, Zhang, Rong, Xu, Xin, Ma, Haiyan, Zhou, Wenhao, Cheng, Guoqiang, Zhang, Peng, Hu, Liyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9249162/
https://www.ncbi.nlm.nih.gov/pubmed/35783322
http://dx.doi.org/10.3389/fped.2022.899991