Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites

(2016) Ashleigh Long et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

(2016) Andrew W. Lindsley et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Kabuki syndrome genesKMT2DandKDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

(2015) Peter M. Van Laarhoven et al.   HUMAN MOLECULAR GENETICS

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation inKDM6A

(2014) Damien Lederer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

(2014) S. Banka et al.   CLINICAL GENETICS

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner

(2012) G. G. Welstead et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS