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Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young.

Cold Spring Harbor molecular case studies - 1 Dec 2023

Kim Hyunji, Kim Hwa Young, Kim Jae Hyun, Seo Soo Hyun, Park Kyung Un

Abstract excerpt

The diagnosis of maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus caused by a mutation in a single gene, is often uncertain until genetic testing is performed. We report a 13-yr-old Korean boy who was initially diagnosed with type 2 diabetes (T2DM). MODY was suspected because of his nonobese body habitus and family history of multiple affected members. Targeted panel sequencing...

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Identifiers

PMID: 37652665
DOI: 10.1101/mcs.a006305
PMCID: PMC10815283

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