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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Crossref DOI link: https://doi.org/10.1038/s41436-021-01119-8

Published Print: 2021-07

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

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 http://orcid.org/0000-0002-8527-2210
Funding

Funding for this research was provided by:

Kabuki Research Fund (629396)
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Text and Data Mining valid from 2021-07-01

Version of Record valid from 2021-11-24
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This article is maintained by: Elsevier

Article Title: Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-021-01119-8

Content Type: article

Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

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