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Article

Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2023

Lee Yee-Lin, Ting Tzer-Hwu, Lim Chong-Teik, Arrumugam-Arthini Crystal, Karuppiah Thilakavathy, Ling King-Hwa

Abstract excerpt

OBJECTIVES: PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years of age diagnosed to have PAX4-MODY, differing from previously reported paediatric cases diagnosed in adolescence....

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Source

Identifiers

PMID: 37621150
DOI: 10.1515/jpem-2023-0171

Genes

PAX4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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