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Paper Details

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
25
2021
ID, Jmj-C domains, KDM6A, KDM6A variants, KS, KS1, KS2, TRP 2, 3, 7, TRP 2, 3, 7 and Jmj, X-linked Kabuki syndrome type 2, congenital heart anomalies,, developmental delay, gastroesophageal reflux, hearing loss, hyperinsulinism, hypoglycemia, intellectual disability, joint hypermobility, microcephaly, motor delay, palate defects, paternally, patients, postnatal growth retardation, renal malformations, seizures, strabismus
Author NameAffiliation
Maria Cristina DigilioBambino Gesu Children's Hospital, IRCCS
Jane A HurstGreat Ormond Street Hospital
Elliot S Gershon
Francesca Romana LepriBambino Gesu Children's Hospital, IRCCS
Siddharth BankaUniversity of Manchester
Siddharth BankaSt Mary's Hospital, Manchester University NHS Foundation Trust
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Release 1.2