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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Detalles Bibliográficos
Autores principales: Hamilton, Alexander J, Bingham, Coralie, McDonald, Timothy J, Cook, Paul R, Caswell, Richard C, Weedon, Michael N, Oram, Richard A, Shields, Beverley M, Shepherd, Maggie, Inward, Carol D, Hamilton-Shield, Julian P, Kohlhase, Jürgen, Ellard, Sian, Hattersley, Andrew T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932761/
https://www.ncbi.nlm.nih.gov/pubmed/24285859
http://dx.doi.org/10.1136/jmedgenet-2013-102066

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