MLL2 and KDM6A mutations in patients with Kabuki syndrome.

N, Miyake; E, Koshimizu; N, Okamoto; S, Mizuno; T, Ogata; T, Nagai; T, Kosho; H, Ohashi; M, Kato; G, Sasaki; H, Mabe; Y, Watanabe; M, Yoshino; T, Matsuishi; J, Takanashi; V, Shotelersuk; M, Tekin; N, Ochi; M, Kubota; N, Ito; K, Ihara; T, Hara; H, Tonoki; T, Ohta; K, Saito; M, Matsuo; M, Urano; T, Enokizono; A, Sato; H, Tanaka; A, Ogawa; T, Fujita; Y, Hiraki; S, Kitanaka; Y, Matsubara; T, Makita; M, Taguri; M, Nakashima; Y, Tsurusaki; H, Saitsu; K, Yoshiura; N, Matsumoto; N, Niikawa

doi:10.1002/ajmg.a.36072

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MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Shared by NobleBlocks on Aug 2, 2013 • 12:00 AM UTC

Authors:

Miyake N

Koshimizu E

Okamoto N

Abstract

Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations...

Subject

Mutation

Kabuki Syndrome

Genotype-phenotype Correlation

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