Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
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Published:2021-07
Issue:7
Volume:23
Page:1202-1210
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
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 SiddharthORCID
Funder
Kabuki Research Fund
Subject
Genetics (clinical)
Cited by
40 articles.
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