Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

Beckwith –Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, whic...

Source: International Journal of Pediatric Endocrinology - July 10, 2020 Category: Endocrinology Authors: Joanna Yuet-ling Tung, Sophie Hon Yu Lai, Sandy Leung Kuen Au, Kit San Yeung, Anita Sik Yau Kan, Florence Loong, Diva D. DeLe ón, Jennifer M. Kalish, Arupa Ganguly, Brian Hon Yin Chung and Kelvin Yuen Kwong Chan Tags: Case report Source Type: research