Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature
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...
| Main Authors: | Lee, Yee-Lin, Ting, Tzer-Hwu, Lim, Chong-Teik, Arrumugam, Crystal Arthini, Karuppiah, Thilakavathy, Ling, King-Hwa |
|---|---|
| Format: | Article |
| Published: |
Walter de Gruyter GmbH
2023
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| Online Access: | http://psasir.upm.edu.my/id/eprint/110050/ |
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