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Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome
Wolcott–Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failu...
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| Publicado no: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5610347/ https://ncbi.nlm.nih.gov/pubmed/28955442 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0090 |
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