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Search from 250 M+ research papersSearch from 250 M+ research papershttps://doi.org/10.1136/jmedgenet-2018-105625
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Dec 4, 2018 |
 Citations: 145 |
Affiliation: Mayo Clinic, Health Sciences University of Hokkaido, University of Manitoba, University of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Maastricht University, Osaka Women's and Children's Hospital, Boston Children's Hospital, Harvard University, Broad Institute, Kennedy Krieger Institute, Tohoku University, Yokohama City University, University of Washington, Casa Sollievo della Sofferenza, Istituti di Ricovero e Cura a Carattere ScientificoBackgroundKabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door...
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