KDM6A Point Mutations Cause Kabuki Syndrome

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

Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A

(2011) T. Sengoku et al.   GENES & DEVELOPMENT

Kabuki syndrome and sex chromosomal anomalies: is it really an association?

(2009) Sebastiano Bianca et al.   FERTILITY AND STERILITY

A small and active ring x chromosome in a female with features of Kabuki syndrome

(2008) L. Rodríguez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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