Mutations in WDR4 as a new cause of Galloway–Mowat syndrome
Galloway‐Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder
characterized by neurodevelopmental defects combined with renal‐glomerular disease …
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 …
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 …
disorder characterized by early-onset nephrotic syndrome and microcephaly with brain …
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
Infantile‐onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait.
Galloway–Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by …
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
Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by
nephrotic syndrome associated with microcephaly and neurological impairment. Through a …
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 …
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 …
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 …
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) …
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 …
spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes. Children …