Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference31 articles.
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2. Congenital Glomerulosclerosis and Nephrotic Syndrome in Two Infants
3. (1989): Congenital nephrotic syndrome with congenital buphthalmos: A new genetic entity? Genet Kidney Dis 205-209.
4. Familial nephrosis associated with deafness and congenital urinary tract anomalies in siblings
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1. Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome;Human Mutation;2022-09-27
2. Neurological involvement in monogenic podocytopathies;Pediatric Nephrology;2021-03-31
3. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome;Journal of the American Society of Nephrology;2021-02-16
4. A patient diagnosed with Galloway–Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs;Documenta Ophthalmologica;2021-02-06
5. PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly;Science Advances;2020-01-10
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