Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the WDR73 gene, and more recently, four new pathog...

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Detalles Bibliográficos
Autores principales: Huang, Limin, Zhang, Xiaojing, Zhang, Yingying, Wang, Yanfei, Mao, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601869/
https://www.ncbi.nlm.nih.gov/pubmed/37900929
http://dx.doi.org/10.1159/000533580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601869/
https://www.ncbi.nlm.nih.gov/pubmed/37900929
http://dx.doi.org/10.1159/000533580

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