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Genetic heterogeneity in Kabuki syndrome

July 5, 2014 by cherylel

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet. 2011 Nov 30; Authors: Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, … Continue reading

MLL2 mutations as a cause of Kabuki syndrome

May 8, 2013 by cherylel

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Sarah B Ng, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Margaret J McMillin, Heidi I Gildersleeve, Anita E Beck, Holly K Tabor, Gregory M Cooper, Heather C Mefford, Choli Lee, Emily H Turner, Joshua D Smith, Mark J Rieder, Koh-Ichiro Yoshiura, Naomichi … Continue reading

Mutational mechanism of MLL2 sheds light on the disease mechanism of KS

April 18, 2013 by cherylel

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome S Banka, E Howard, S Bunstone, Ke Chandler, B Kerr, K Lachlan, S McKee, Sg Mehta, Alt Tavares, J Tolmie and D Donnai Department of Genetic Medicine, St Mary’s Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK. Clin Genet 83:5, … Continue reading

Review | Unmasking Kabuki syndrome

April 17, 2013 by cherylel

Unmasking Kabuki syndrome Bo¨gershausen N, Wollnik B. Clin Genet 2012. ℀ John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012 The variability in symptoms in patients with suspected KS as well as the genetic heterogeneity of the condition make the diagnostic process a challenge to clinicians. In recent years, however, discovery of the … Continue reading

Review | Kabuki syndrome revisited

March 30, 2013 by cherylel

Kabuki syndrome revisited Journal of Human Genetics (2012) 57, 223–227 & 2012 The Japan Society of Human Genetics Author:  Yemisi Bokinni Little was known about the etiology and molecular basis of Kabuki syndrome when it was first discovered in 1981. In 2010, however, researchers identified MLL2 to be the causative gene in the majority of … Continue reading