共 537 条
[1]
Niikawa N(1981)Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency J Pediatr 1981 565-569
[2]
Matsura N(1981)A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation J Pediatr 99 570-573
[3]
Fukushima Y(1988)Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients Am J Med Genet 31 562-569
[4]
Ohsawa T(2019)Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms World J Pediatr 15 528-535
[5]
Kajii T(2010)Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Nat Genet 42 790-793
[6]
Kuroki Y(2011)MLL2 mutation spectrum in 45 patients with Kabuki syndrome Hum Mutat 32 E2018-E2025
[7]
Suzuki Y(2018)Dissecting KMT2D missense mutations in Kabuki syndrome patients Hum Mol Genet 27 3651-3668
[8]
Chyo H(2018)Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review BMC Med Genet 19 31-295
[9]
Hata A(2018)Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes Clin Genet 94 283-124
[10]
Matsui I(2012)Deletion of KDM6A, a histonedemethylase interacting with MLL2, in three patients with Kabuki syndrome Am J Hum Genet 90 119-110