Galloway-Mowat Syndrome Latest Advances

Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.

Journal: BMC pediatrics

Published: March 14, 2025

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Journal: Ophthalmic genetics

Published: November 22, 2024

Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.

Journal: Cell communication and signaling : CCS

Published: November 10, 2024

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 02, 2024

Structures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.

Journal: Nature communications

Published: December 02, 2023

Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.

Journal: CEN case reports

Published: December 03, 2022

Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant.

Journal: Journal of neuropathology and experimental neurology

Published: September 05, 2022

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

Journal: Human mutation

Published: June 28, 2022

A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: May 23, 2022

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

Journal: BMC nephrology

Published: April 22, 2022

X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant.

Journal: Pediatrics and neonatology

Published: January 18, 2022

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: September 13, 2021

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Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.

Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.

Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

Structures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.

Structures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.

Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.

Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.

Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant.

Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant.

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

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

A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.

A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.

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

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

X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant.

X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant.

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.