Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

Abstract

The clinical data of our cases enlarge the wide spectrum of patients with HNF1B anomaly. The underlying molecular defect in all cases was a 1.3- to 1.7-Mb deletion, and paired, segmental duplications along with breakpoints were most likely involved in this recurrent chromosomal microdeletion.