Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A varian...
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
About this item
Full title
Author / Creator
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 and Banka, Siddharth
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.
Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed.
Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were i...
Alternative Titles
Full title
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8257478
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8257478
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-021-01119-8
