Ontology highlight
ABSTRACT:
SUBMITTER: Lu J
PROVIDER: S-EPMC5042757 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Lu Jun J Mo Guiling G Ling Yaojun Y Ji Lijuan L
Molecular medicine reports 20160826 4
Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. Mutation of the lysine methyltransferase 2D (KMT2D) gene (formerly known as MLL2) is the primary cause of KS. The present study reported the case of a 4‑year‑old Chinese girl who presented with atypical KS, including aty ...[more]