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

MLL2 and KDM6A mutations in patients with Kabuki syndrome

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

Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome

(2012) Aarti H. Bhat et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

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

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

(2011) Mark C. Hannibal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

A mutation screen in patients with Kabuki syndrome

(2011) Yun Li et al.   HUMAN GENETICS

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

(2011) Lucia Micale et al.   Orphanet Journal of Rare Diseases

Regulating a master regulator

(2010) Arif Aziz et al.   Epigenetics

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

(2010) Aimée D. C. Paulussen et al.   HUMAN MUTATION

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Sex-Specific Differences in Expression of Histone Demethylases Utx and Uty in Mouse Brain and Neurons

(2008) J. Xu et al.   JOURNAL OF NEUROSCIENCE