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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296068/ https://www.ncbi.nlm.nih.gov/pubmed/30558655 http://dx.doi.org/10.1186/s13023-018-0961-9 |