Article
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
American journal of medical genetics. Part A - 1 Sept 2013
Miyake Noriko, Koshimizu Eriko, Okamoto Nobuhiko, Mizuno Seiji, Ogata Tsutomu, Nagai Toshiro, Kosho Tomoki, Ohashi Hirofumi, Kato Mitsuhiro, Sasaki Goro, Mabe Hiroyo, Watanabe Yoriko, Yoshino Makoto, Matsuishi Toyojiro, Takanashi Jun-ichi, Shotelersuk Vorasuk, Tekin Mustafa, Ochi Nobuhiko, Kubota Masaya, Ito Naoko, Ihara Kenji, Hara Toshiro, Tonoki Hidefumi, Ohta Tohru, Saito Kayoko, Matsuo Mari, Urano Mari, Enokizono Takashi, Sato Astushi, Tanaka Hiroyuki, Ogawa Atsushi, Fujita Takako, Hiraki Yoko, Kitanaka Sachiko, Matsubara Yoichi, Makita Toshio, Taguri Masataka, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Yoshiura Ko-ichiro, Matsumoto Naomichi, Niikawa Norio
Abstract excerpt
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. Mutati...
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