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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Detalles Bibliográficos
Autores principales: Liu, Jiaojiao, Shen, Qian, Li, Guomin, Xu, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045817/
https://www.ncbi.nlm.nih.gov/pubmed/30005691
http://dx.doi.org/10.1186/s13256-018-1740-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045817/
https://www.ncbi.nlm.nih.gov/pubmed/30005691
http://dx.doi.org/10.1186/s13256-018-1740-x

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