Ontology highlight
ABSTRACT:
SUBMITTER: Gole H
PROVIDER: S-EPMC5067400 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Gole Hobia H Chuk Raymond R Coman David D
Clinics and practice 20160823 3
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome <i>i.e., KMT2D</i> and <i>KDM6A</i>, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Her ...[more]