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◆ Archives of disease in childhood. Education and practice edition2026-08-14

Fifteen minute consultation: managing children with HNF1B pathogenic variants.

Jennifer R O'Gorman, Yincent Tse, Judith Reid, Coralie Bingham, Salma Mohamed

原始摘要(英文原文)· Original abstract
Hepatocyte nuclear factor 1 beta (HNF1B) related disease is associated with multisystem involvement, most commonly renal developmental disorders and diabetes alongside a spectrum of other clinical features. With the increasing availability of genomic testing, paediatricians across multiple specialties are more frequently encountering children with pathogenic HNF1B variants. This review provides a practical guide for paediatricians on the management and long-term follow-up of affected children.
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Fifteen minute consultation: managing children with HNF1B pathogenic variants. — 科研速览 Science Skim