Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Abstract Background Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be a genetic...

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Bibliographic Details
Main Authors: Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin, Jeng-Daw Tsai
Format: Article
Language:English
Published: BMC 2018-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Galloway-Mowat syndrome
OSGEP
KEOPS
Nephrotic syndrome
Microcephaly
Pachygyria
Online Access:http://link.springer.com/article/10.1186/s13023-018-0961-9

Internet

http://link.springer.com/article/10.1186/s13023-018-0961-9

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