X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference5 articles.
1. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs;Galloway;J Med Genet,1968
2. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly;Braun;Nat Genet,2017
3. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype;Lin;Orphanet J Rare Dis,2018
4. Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome;Shiihara;J Child Neurol,2003
5. An unusual case of nephrotic syndrome in a microcephalic infant: answers;Baker;Pediatr Nephrol,2019
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