Mutations in WDR4 as a new cause of Galloway–Mowat syndrome

DA Braun, S Shril, A Sinha, R Schneider… - American journal of …, 2018 - Wiley Online Library
Galloway‐Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder
characterized by neurodevelopmental defects combined with renal‐glomerular disease …

Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene

RO Rosti, E Dikoglu, MS Zaki… - American Journal of …, 2016 - Wiley Online Library
Galloway–Mowat syndrome is a rare autosomal‐recessive disorder classically described as
the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating …

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

A Domingo-Gallego, M Furlano, M Pybus, D Barraca… - BMC nephrology, 2019 - Springer
Abstract Background Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive
disorder characterized by early-onset nephrotic syndrome and microcephaly with brain …

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

J Vodopiutz, R Seidl, D Prayer, MI Khan… - Human …, 2015 - Wiley Online Library
Infantile‐onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait.
Galloway–Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by …

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

E Colin, EH Cong, G Mollet, A Guichet… - The American Journal of …, 2014 - cell.com
Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by
nephrotic syndrome associated with microcephaly and neurological impairment. Through a …

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome

T Ben-Omran, S Fahiminiya, N Sorfazlian… - Journal of Medical …, 2015 - jmg.bmj.com
Background Neuroanatomical defects are often present in children with severe
developmental delay and intellectual disabilities. Few genetic loci have been associated …

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

HS Hyun, SH Kim, E Park, MH Cho, HG Kang… - BMC Medical …, 2018 - Springer
Abstract Background Galloway–Mowat syndrome (GAMOS) is a rare hereditary renal–
neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in …

Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome

A Fujita, H Tsukaguchi, E Koshimizu… - Annals of …, 2018 - Wiley Online Library
Objective Galloway–Mowat syndrome (GAMOS) is a neural and renal disorder,
characterized by microcephaly, brain anomalies, and early onset nephrotic syndrome …

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

RO Rosti, BN Sotak, SL Bielas, G Bhat… - Journal of medical …, 2017 - jmg.bmj.com
Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the
Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144) …

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

RN Jinks, EG Puffenberger, E Baple, B Harding… - Brain, 2015 - academic.oup.com
We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome
spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes. Children …