SAT165 A Novel Mutation In The HNF4α Gene (C.691C>T, P.arg231trp) Likely To Be Pathogenic For Maturity Onset Diabetes Of The Young Type 1 Presenting With Hyperinsulinemic Hypoglycemia In An Infant

Disclosure: A. Rodriguez: None. S. Sastry: None. W. Chemaitilly: None. N. Gurtunca: None. Background: Maturity Onset Diabetes of the Young type 1 (MODY 1) is a monogenic form of diabetes mellitus caused by a defective HNF4α gene, resulting in reduced insulin secretion and diabetes in early adolescen...

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Detalles Bibliográficos
Autores principales: Rodriguez, Adriana, Sastry, Shruti, Chemaitilly, Wassim, Gurtunca, Nursen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Diabetes And Glucose Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555261/
http://dx.doi.org/10.1210/jendso/bvad114.1029

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