Review of neurodevelopmental disorders in patients with HNF1B gene variations

Review of neurodevelopmental disorders in patients with HNF1B gene variations

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...

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Bibliographic Details
Main Authors: Clara Marie Nittel, Frederike Dobelke, Jens König, Martin Konrad, Katja Becker, Inge Kamp-Becker, Stefanie Weber, for the NEOCYST consortium
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Pediatrics
Subjects:
renal cyst and diabetes syndrome
HNF1B
neurodevelopmental disorder (NDD)
autism spectrum disorder
review
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1149875/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1149875/full

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