Article
A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.
European journal of medical genetics - 1 Sept 2021
Patouni Konstantina, Cinek Ondrej, Pruhova Stepanka, Elblova Lenka, Xatzipsalti Maria, Sertedaki Amalia, Vazeou Andriani
Abstract excerpt
BACKGROUND: Maturity onset diabetes of the young (MODY) is the most commonly reported form of monogenic diabetes in the pediatric population. Only a few cases of digenic MODY have been reported up to now. CASE REPORT: A female patient was diagnosed with diabetes at the age of 7 years and was treated with insulin. A strong family history of diabetes was present in the maternal side of the family. The patient also...
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