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HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature

BACKGROUND: The p.R63W mutation in hepatocyte nuclear factor-4 alpha (HNF4A) leads to a heterogeneous group of disorders with various clinical presentations. Recently, patients with congenital hyperinsulinism and Fanconi syndrome due to the p.R63W mutation in HNF4A have been described. Although othe...

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Detalhes bibliográficos
Publicado no:J Med Case Rep
Main Authors: Liu, Jiaojiao, Shen, Qian, Li, Guomin, Xu, Hong
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6045817/
https://ncbi.nlm.nih.gov/pubmed/30005691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-018-1740-x
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