Kabuki-Syndrom 1

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.

Van Laarhoven PM et al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Ng SB et al. (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Li Y et al. (2011) A mutation screen in patients with Kabuki syndrome.

Hannibal MC et al. (2011) Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Banka S et al. (2012) How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Niikawa N et al. (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

Philip N et al. (1992) Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Matsumura M et al. (1992) Anorectal anomalies associated with Kabuki make-up syndrome.

Gillis R et al. (1990) The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.

Halal F et al. (1989) Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.

Niikawa N et al. (1988) Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Niikawa N et al. (1982) The dermatoglyphic pattern of the Kabuki make-up syndrome.

Kuroki Y et al. (1981) A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Ilyina H et al. (1995) Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations.

Burke LW et al. (1995) Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.

Hughes HE et al. (1994) Coarctation of the aorta in Kabuki syndrome.

Franceschini P et al. (1993) Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

Galán-Gómez E et al. (1995) Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

Kobayashi O et al. (1996) Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome.

Li M et al. (1996) Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Silengo M et al. (1996) Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome.

Tsukahara M et al. (1997) Dominant inheritance of Kabuki make-up syndrome.

Lerone M et al. (1997) Ectodermal abnormalities in Kabuki syndrome.

Fryns JP et al. (1998) Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome.

Lo IF et al. (1998) Interstitial Dup(1p) with findings of Kabuki make-up syndrome.

None (1998) Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.

Ewart-Toland A et al. (1998) Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

Kawame H et al. (1999) Phenotypic spectrum and management issues in Kabuki syndrome.

Kokitsu-Nakata NM et al. (1999) Lower lip pits and anorectal anomalies in Kabuki syndrome.

Makita Y et al. (1999) Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.

McGaughran JM et al. (2000) Biliary atresia in Kabuki syndrome.

Donadio A et al. (2000) Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?

Igawa HH et al. (2000) Inner ear abnormalities in Kabuki make-up syndrome: report of three cases.

Courtens W et al. (2000) Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

van Haelst MM et al. (2000) Unexpected life-threatening complications in Kabuki syndrome.

Matsune K et al. (2001) Craniofacial and dental characteristics of Kabuki syndrome.

Selicorni A et al. (2001) Biliary atresia and Kabuki syndrome: another case with long-term follow-up.

Digilio MC et al. (2001) Congenital heart defects in Kabuki syndrome.

McGaughran J et al. (2001) Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand.

Kurosawa K et al. (2002) Patellar dislocation in Kabuki syndrome.

Wessels MW et al. (2002) Kabuki syndrome: a review study of three hundred patients.

Shotelersuk V et al. (2002) Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

Mihçi E et al. (2002) Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome.

Hinrichs B et al. (2002) Defective clavicles in Kabuki syndrome.

Ming JE et al. (2003) Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Milunsky JM et al. (2003) Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

White SM et al. (2004) Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

Miyake N et al. (2004) On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

Geneviève D et al. (2004) Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

Hoffman JD et al. (2005) Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

Turner C et al. (2005) Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

Hoffman JD et al. (2005) Immune abnormalities are a frequent manifestation of Kabuki syndrome.

Bottani A et al. (2006) No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.

Maas NM et al. (2007) The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Kuniba H et al. (2008) Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.

OMIM.ORG article