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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
BACKGROUND: Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal d...
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Main Authors: | , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BMJ Publishing Group
2014
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3932761/ https://ncbi.nlm.nih.gov/pubmed/24285859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-102066 |
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