Ontology highlight
ABSTRACT:
SUBMITTER: Kalish JM
PROVIDER: S-EPMC4740975 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Kalish Jennifer M JM Boodhansingh Kara E KE Bhatti Tricia R TR Ganguly Arupa A Conlin Laura K LK Becker Susan A SA Givler Stephanie S Mighion Lindsey L Palladino Andrew A AA Adzick N Scott NS De León Diva D DD Stanley Charles A CA Deardorff Matthew A MA
Journal of medical genetics 20151106 1
<h4>Background</h4>Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith-Wiedemann syndrome (BWS), the underlying mechanism is not known.<h4>Methods</h4>We characterised the clinical features of children with both HI and BWS/11p overgrowth spectrum, evaluated the contribution of KATP channel mutations to the molecular pathogenesis of their HI and assessed molecular pathogenesis associated with features ...[more]