Article
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021
Faundes Víctor, Goh Stephanie, Akilapa Rhoda, Bezuidenhout Heidre, Bjornsson Hans T, Bradley Lisa, Brady Angela F, Brischoux-Boucher Elise, Brunner Han, Bulk Saskia, Canham Natalie, Cody Declan, Dentici Maria Lisa, Digilio Maria Cristina, Elmslie Frances, Fry Andrew E, Gill Harinder, Hurst Jane, Johnson Diana, Julia Sophie, Lachlan Katherine, Lebel Robert Roger, Byler Melissa, Gershon Eric, Lemire Edmond, Gnazzo Maria, Lepri Francesca Romana, Marchese Antonia, McEntagart Meriel, McGaughran Julie, Mizuno Seiji, Okamoto Nobuhiko, Rieubland Claudine, Rodgers Jonathan, Sasaki Erina, Scalais Emmanuel, Scurr Ingrid, Suri Mohnish, van der Burgt Ineke, Matsumoto Naomichi, Miyake Noriko, Benoit Valérie, Lederer Damien, Banka Siddharth
Abstract excerpt
PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. RESULTS: Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Missense variants clustered in the...
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