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Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome

26 Mar 2022

Abstract excerpt

BACKGROUND: Maturity-onset diabetes of the young type 5 (MODY5) is a rare subtype of MODYs. It is caused by mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B). 17q12 recurrent deletion syndrome usually results in MODY5 because of the deletion of HNF1B. These patients often have other clinical manifestations besides diabetes. Refractory hypomagnesemia was a clue for further examination in this...

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PMID: 35346144
DOI: 10.1186/s12902-022-00989-6

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