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Article

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.

Human mutation - 1 Dec 2022

Treimer Ernestine, Kalayci Tugba, Schumann Sven, Suer Ilknur, Greco Sara, Schanze Denny, Schmeisser Michael J, Kühl Susanne J, Zenker Martin

Abstract excerpt

Galloway-Mowat syndrome (GAMOS) is a very rare condition characterized by early-onset nephrotic syndrome and microcephaly with variable neurologic features. While considerable genetic heterogeneity of GAMOS has been identified, the majority of cases are caused by pathogenic variants in genes encoding the four components of the Kinase, endopeptidase, and other proteins of small size (KEOPS) complex, one of which...

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PMID: 36116039
DOI: 10.1002/humu.24472

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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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