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Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report
Published 2023-09-01Subjects: “…galloway-mowat syndrome…”
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2
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
Published 2018-07-01Subjects: “…Galloway–Mowat syndrome…”
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3
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Published 2018-12-01Subjects: “…Galloway-Mowat syndrome…”
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4
Early onset nephrotic syndrome with dysmorphic facies and microcephaly
Published 2015-07-01Subjects: Get full text
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5
Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome
Published 2024-04-01Subjects: Get full text
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6
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
Published 2022-06-01Subjects: “…Galloway-Mowat syndrome…”
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7
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
Published 2019-04-01Subjects: “…Galloway-Mowat syndrome…”
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8
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings
Published 2018-06-01Subjects: “…Galloway-Mowat syndrome…”
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9
Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients
Published 2023-02-01Subjects: Get full text
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10
Galloway–Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review
Published 2022-06-01Subjects: “…Galloway-Mowat syndrome…”
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11
Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3
Published 2023-02-01Subjects: “…Galloway-Mowat syndrome…”
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