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) …
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 …
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 …
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 …
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome
Galloway–Mowat syndrome (GAMOS) is a very rare condition characterized by early‐onset
nephrotic syndrome and microcephaly with variable neurologic features. While considerable …
nephrotic syndrome and microcephaly with variable neurologic features. While considerable …
Mutations in PRDM15 are a novel cause of Galloway-Mowat syndrome
Background Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental
defects and a progressive nephropathy, which typically manifests as steroid-resistant …
defects and a progressive nephropathy, which typically manifests as steroid-resistant …
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 …
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
PY Lin, MH Tseng, M Zenker, J Rao… - Orphanet journal of rare …, 2018 - Springer
Abstract Background Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive
disease characterized by the combination of glomerulopathy with early-onset nephrotic …
disease characterized by the combination of glomerulopathy with early-onset nephrotic …