NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)-Reference-Cited by-同舟云学术

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

Published:2014-03-27 Issue:3 Volume:87 Page:252-258
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Banka S.¹²,Lederer D.³,Benoit V.³,Jenkins E.¹,Howard E.¹,Bunstone S.¹,Kerr B.¹²,McKee S.⁴,Lloyd I.C.⁵,Shears D.⁶,Stewart H.⁶,White S.M.⁷⁸,Savarirayan R.⁷⁸,Mancini G.M.S.⁹,Beysen D.¹⁰,Cohn R.D.¹¹,Grisart B.³,Maystadt I.³,Donnai D.¹

Affiliation:

1. Manchester Centre for Genomic Medicine, St Mary's Hospital; Manchester Academic Health Science Centre (MAHSC); Manchester UK

2. Manchester Centre for Genomic Medicine, Institute of Human Development; University of Manchester; Manchester UK

3. Centre de Génétique Humaine; Institut de Pathologie et Génétique; Charleroi Belgium

4. Northern Ireland Regional Genetics Service; Belfast City Hospital; Belfast UK

5. Manchester Royal Eye Hospital; MAHSC; Manchester UK

6. Department of Clinical Genetics, Churchill Hospital; Oxford University Hospitals NHS Trust; Oxford UK

7. Murdoch Children's Research Institute; Royal Children's Hospital; Melbourne Victoria Australia

8. Department of Paediatrics; University of Melbourne; Melbourne Victoria Australia

9. Department of Clinical Genetics; Erasmus University Medical Center (Erasmus MC); Rotterdam The Netherlands

10. Center for Medical Genetics; Ghent University; Ghent Belgium

11. Department of Paediatrics and Molecular Genetics, The Hospital for Sick Children; University of Toronto; Toronto Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Unmasking Kabuki syndrome;Bögershausen;Clin Genet,2013

2. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010

3. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012

4. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome;Hannibal;Am J Med Genet A,2011

5. MLL2 mutation spectrum in 45 patients with Kabuki syndrome;Paulussen;Hum Mutat,2011

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