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Review of neurodevelopmental disorders in patients with HNF1B gene variations

9 Mar 2023

Abstract excerpt

This review investigates the association between neurodevelopmental disorders (NDD) and variations of the gene HNF1B. Heterozygous intragenetic mutations or heterozygous gene deletions (17q12 microdeletion syndrome) of HNF1B are the cause of a multi-system developmental disorder, termed renal cysts and diabetes syndrome (RCAD). Several studies suggest that in general, patients with genetic variation of HNF1B have...

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PMID: 36969268
DOI: 10.3389/fped.2023.1149875

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