Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3

Abstract Background Galloway-Mowat syndrome (GAMOS) is a group of rare hereditary diseases by the combination of early onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73, LAGE3, OSGEP, TP53RK, TPRKB, GON7, WDR4 or NUP133 mutations. Case presentati...

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Autors principals:	Yan Chen, Yan Yang, Yang Yang, Jia Rao, Haitao Bai
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2023-02-01
Col·lecció:	BMC Nephrology
Matèries:	Galloway-Mowat syndrome LAGE3 gene Early-onset nephrotic syndrome Focal segmental glomerulosclerosis Steroid-resistant nephrotic syndrome
Accés en línia:	https://doi.org/10.1186/s12882-022-03000-5
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