MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome-Reference-Cited by-同舟云学术

MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

Published:2012-09-18 Issue:5 Volume:83 Page:467-471
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Banka S¹,Howard E¹,Bunstone S¹,Chandler KE¹,Kerr B¹,Lachlan K²,McKee S³,Mehta SG⁴,Tavares ALT⁴,Tolmie J⁵,Donnai D¹

Affiliation:

1. Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC); University of Manchester; Manchester; UK

2. Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust and Human Genetics and Genomic Medicine, Faculty of Medicine; University of Southampton; Southampton; UK

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

4. Department of Clinical Genetics, East Anglian Medical Genetics Service; Addenbrooke's Hospital; Cambridge; UK

5. Clinical Genetics Department; Yorkhill Hospitals; Glasgow; UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01955.x/fullpdf

Reference9 articles.

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

2. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2011

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

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

5. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients;Micale;Orphanet J Rare Dis,2011

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