A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Open Access
- 17 January 2020
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 22 (5), 867-877
- https://doi.org/10.1038/s41436-019-0743-3
Abstract
No abstract availableFunding Information
- Newlife – The Charity for Disabled Children (16-17/10, 16-17/10, 16-17/10, 16-17/10, 16-17/10)
- Chile’s National Commission for Scientific and Technological Research (72160007)
This publication has 40 references indexed in Scilit:
- MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndromeClinical Genetics, 2012
- The COMPASS Family of Histone H3K4 Methylases: Mechanisms of Regulation in Development and Disease PathogenesisAnnual Review of Biochemistry, 2012
- Age-associated DNA methylation in pediatric populationsGenome Research, 2012
- Bump hunting to identify differentially methylated regions in epigenetic epidemiology studiesInternational Journal of Epidemiology, 2012
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumEuropean Journal of Human Genetics, 2011
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeNature Genetics, 2010
- Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cystsAmerican Journal of Medical Genetics Part A, 2007
- A versatile ligation-independent cloning method suitable for high-throughput expression screening applicationsNucleic Acids Research, 2007
- Carbimazole embryopathy: An emerging phenotypeAmerican Journal of Medical Genetics Part A, 2004
- MultiCoil: A program for predicting two‐and three‐stranded coiled coilsProtein Science, 1997