Article
Hyperglycemia Due to HNF1A-Mutation-Associated Maturity-Onset Diabetes of the Young (MODY) in a 6-Year-Old Kazakh Girl.
The American journal of case reports - 6 Jun 2026
Toleuzhanova Aiganym B, Zholdybayeva Elena, Eslamgalieva Sholpan, Svyatova Gulnara, Akhmetollayeva Ainash
Abstract excerpt
BACKGROUND In this report, a Kazakh family with multigenerational clustering of diabetes mellitus was observed, strongly suggestive of a monogenic, heritable form such as maturity-onset diabetes of the young (MODY). Whole exome sequencing identified a heterozygous frameshift deletion in the hepatocyte nuclear factor 1 alpha (HNF1A) gene; benign or likely benign variants were detected in other MODY-associated...
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