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Article

Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.

BMC nephrology - 8 Feb 2023

Chen Yan, Yang Yan, Yang Yang, Rao Jia, Bai Haitao

Abstract excerpt

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a group of rare hereditary diseases by the combination of early onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73, LAGE3, OSGEP, TP53RK, TPRKB, GON7, WDR4 or NUP133 mutations. CASE PRESENTATION: We present the clinical and genetic features of a two-year-old boy with early nephrotic syndrome, microcephaly, growth...

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Identifiers

PMID: 36755238
DOI: 10.1186/s12882-022-03000-5
PMCID: PMC9909869

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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