Review of neurodevelopmental disorders in patients with HNF1B gene variations

• Main Authors: Clara Marie Nittel (Author), Frederike Dobelke (Author), Jens König (Author), Martin Konrad (Author), Katja Becker (Author), Inge Kamp-Becker (Author), Stefanie Weber (Author), for the NEOCYST consortium (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...