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Article

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.

BMC medical genetics - 27 Jul 2018

Hyun Hye Sun, Kim Seong Heon, Park Eujin, Cho Myung Hyun, Kang Hee Gyung, Lee Hyun Soon, Miyake Noriko, Matsumoto Naomichi, Tsukaguchi Hiroyasu, Cheong Hae Il

Abstract excerpt

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare hereditary renal-neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the genes encoding the four KEOPS subunits: OSGEP, TP53RK, TPRKB, and LAGE3. CASE PRESENTATION: We detected a novel homozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30053862
DOI: 10.1186/s12881-018-0649-y
PMCID: PMC6063015

Genes

LAGE3
OSGEP
TPRKB

Variants

Provenance

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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A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.PMID 30053862Read ↗

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