1 김현주, "한국인 Kabuki 증후군 환아들의 임상적 표현형 및 세포유전학적 양상" 대한의학유전학회 7 (7): 37-44, 2010
2 임헌섭, "안과적 이상을 동반한 가부키 증후군 1예" 대한안과학회 48 (48): 1728-1730, 2007
3 Dillon SC, "The SET-domain protein superfamily: protein lysine methyltransferases" 6 : 227-, 2005
4 Nam Gil Kim, "Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome" 대한안과학회 25 (25): 136-138, 2011
5 Hannibal MC, "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome" 155 : 1511-1516, 2011
6 Micale L, "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients" 6 : 38-, 2011
7 FitzGerald KT, "MLL2: a new mammalian member of the trx/MLL family of genes" 59 : 187-192, 1999
8 Paulussen AD, "MLL2 mutation spectrum in 45 patients with Kabuki syndrome" 32 : E2018-E2025, 2011
9 Issaeva I, "Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth" 27 : 1889-1903, 2007
10 Bokinni Y, "Kabuki syndrome revisited" 57 : 223-227, 2012
1 김현주, "한국인 Kabuki 증후군 환아들의 임상적 표현형 및 세포유전학적 양상" 대한의학유전학회 7 (7): 37-44, 2010
2 임헌섭, "안과적 이상을 동반한 가부키 증후군 1예" 대한안과학회 48 (48): 1728-1730, 2007
3 Dillon SC, "The SET-domain protein superfamily: protein lysine methyltransferases" 6 : 227-, 2005
4 Nam Gil Kim, "Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome" 대한안과학회 25 (25): 136-138, 2011
5 Hannibal MC, "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome" 155 : 1511-1516, 2011
6 Micale L, "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients" 6 : 38-, 2011
7 FitzGerald KT, "MLL2: a new mammalian member of the trx/MLL family of genes" 59 : 187-192, 1999
8 Paulussen AD, "MLL2 mutation spectrum in 45 patients with Kabuki syndrome" 32 : E2018-E2025, 2011
9 Issaeva I, "Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth" 27 : 1889-1903, 2007
10 Bokinni Y, "Kabuki syndrome revisited" 57 : 223-227, 2012
11 Niikawa N, "Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency" 99 : 565-569, 1981
12 Niikawa N, "Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients" 31 : 565-589, 1988
13 Banka S, "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum" 20 : 381-388, 2012
14 Ng SB, "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome" 42 : 790-793, 2010
15 Lederer D, "Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome" 90 : 119-124, 2012
16 Huh JK, "Cleft hand in Kabuki make-up syndrome: case report" 36 : 653-657, 2011
17 Priolo M, "Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome" 107 : 627-629, 2012
18 Kuroki Y, "A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation" 99 : 570-573, 1981
19 Li Y, "A mutation screen in patients with Kabuki syndrome" 130 : 715-724, 2011
20 Park SK, "A case of Kabuki make-up syndrome" 34 : 790-792, 1991