How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum-Reference-Cited by-同舟云学术

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Published:2011-11-30 Issue:4 Volume:20 Page:381-388
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Banka Siddharth,Veeramachaneni Ratna,Reardon William,Howard Emma,Bunstone Sancha,Ragge Nicola,Parker Michael J,Crow Yanick J,Kerr Bronwyn,Kingston Helen,Metcalfe Kay,Chandler Kate,Magee Alex,Stewart Fiona,McConnell Vivienne P M,Donnelly Deirdre E,Berland Siren,Houge Gunnar,Morton Jenny E,Oley Christine,Revencu Nicole,Park Soo-Mi,Davies Sally J,Fry Andrew E,Lynch Sally Ann,Gill Harinder,Schweiger Susann,Lam Wayne W K,Tolmie John,Mohammed Shehla N,Hobson Emma,Smith Audrey,Blyth Moira,Bennett Christopher,Vasudevan Pradeep C,García-Miñaúr Sixto,Henderson Alex,Goodship Judith,Wright Michael J,Fisher Richard,Gibbons Richard,Price Susan M,C de Silva Deepthi,Temple I Karen,Collins Amanda L,Lachlan Katherine,Elmslie Frances,McEntagart Meriel,Castle Bruce,Clayton-Smith Jill,Black Graeme C,Donnai Dian

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011220.pdf

Reference15 articles.

1. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I : A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99: 570–573.

2. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T : Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99: 565–569.

3. Adam MP, Hudgins L : Kabuki syndrome: a review. Clin Genet 2005; 67: 209–219.

4. Ng SB, Buckingham KJ, Hannibal MC et al: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42: 790–793.

5. Paulussen ADC, Stegmann APA, Blok MJ et al: MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat 2011; 32: E2018–E2025.

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