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

• Egile Nagusiak: Suhua Xu (Egilea), Lan Hu (Egilea), Lin Yang (Egilea), Bingbing Wu (Egilea), Yun Cao (Egilea), Rong Zhang (Egilea), Xin Xu (Egilea), Haiyan Ma (Egilea), Wenhao Zhou (Egilea), Guoqiang Cheng (Egilea), Peng Zhang (Egilea), Liyuan Hu (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

BackgroundGalloway-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 identified...