Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A

CONTEXT: Inactivating mutations in HNF1A and HNF4A cause the maturity-onset diabetes of youth (MODY)-3 and MODY1 forms of monogenic diabetes, respectively. Children carrying HNF4A (MODY1) mutations can present in early infancy with macrosomia and diazoxide-responsive hyperinsulinism. OBJECTIVE: Our...

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Autors principals: Stanescu, Diana E., Hughes, Nkecha, Kaplan, Bernard, Stanley, Charles A., De León, Diva D.
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2012
Matèries:
JCEM Online: Advances in Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3674296/
https://ncbi.nlm.nih.gov/pubmed/22802087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-1356
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