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

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 genetically het...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Lin, Pei-Yi, Tseng, Min-Hua, Zenker, Martin, Rao, Jia, Hildebrandt, Friedhelm, Lin, Shih-Hua, Lin, Chun-Chen, Chang, Jui-Hsing, Hsu, Chyong-Hsin, Lee, Ming-Dar, Lin, Shuan-Pei, Tsai, Jeng-Daw
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6296068/
https://ncbi.nlm.nih.gov/pubmed/30558655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0961-9
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