Kabuki syndrome is characterized by typical facial deformities, skeletal abnormalities, dwarfism, and mental retardation.
Lederer D et. al. (2012) Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.[^]
Miyake N et. al. (2013) KDM6A point mutations cause Kabuki syndrome.[^]
Miyake N et. al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.[^]
Micale L et. al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.[^]
Lederer D et. al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.[^]
Van Laarhoven PM et. al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.[^]
Niikawa N et. al. (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.[^]