Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway–Mowat syndrome in Iran
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Earth and Planetary Sciences,General Environmental Science
Link
https://link.springer.com/content/pdf/10.1007/s13730-023-00775-w.pdf
Reference10 articles.
1. Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet. 1968;5(4):319–21.
2. B. B. A. De Vries, W. G. Van’t Hoff, R. A. H. Surtees, R. M. Winter, 2001 “Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay,” Clin. Dysmorpholl 10 (2) 115–121
3. Braun DA, et al. Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly. Nat Genet. 2017;49(10):1529–38.
4. Pezzella M, et al. Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. two novel cases and review of literature. Seizure. 2010;19(2):132–5.
5. A. Domingo-Gallego et al “Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: Case report and review of the literature”. BMC Nephrology 20 (1) 126 (2019)
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