Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24472
Abstract: 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… read more here.
Keywords: novel tp53rk; mowat syndrome; mutation; tp53rk ... See more keywords
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.806190
Abstract: Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnormalities of the brain. Most patients die… read more here.
Keywords: four affected; affected individuals; sialoglycoprotein endopeptidase; mowat syndrome ... See more keywords