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...
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| Format: | Article |
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Walter de Gruyter GmbH
2023
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