Genetics and phenotypic heterogeneity of Galloway–Mowat syndrome

Abstract Galloway–Mowat syndrome (GAMOS) is a rare autosomal recessive genetic disorder that is underrecognized. The phenotype is heterogeneous, but it is now widely accepted that early-onset nephrotic syndrome (SRNS) and microcephaly with brain malformation are characteristic features of Galloway–M...

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Principais autores:	Limin Huang, Yanfei Wang, Yingying Zhang, Haidong Fu, Jianhua Mao
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2025-06-01
Serija:	Cell Communication and Signaling
Teme:	Galloway–Mowat syndrome WDR73 KEOPS complex Phenotypic heterogeneity
Online dostop:	https://doi.org/10.1186/s12964-025-02307-8
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