Article
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
American journal of medical genetics. Part A - 1 Jul 2011
Hannibal Mark C, Buckingham Kati J, Ng Sarah B, Ming Jeffrey E, Beck Anita E, McMillin Margaret J, Gildersleeve Heidi I, Bigham Abigail W, Tabor Holly K, Mefford Heather C, Cook Joseph, Yoshiura Koh-ichiro, Matsumoto Tadashi, Matsumoto Naomichi, Miyake Noriko, Tonoki Hidefumi, Naritomi Kenji, Kaname Tadashi, Nagai Toshiro, Ohashi Hirofumi, Kurosawa Kenji, Hou Jia-Woei, Ohta Tohru, Liang Deshung, Sudo Akira, Morris Colleen A, Banka Siddharth, Black Graeme C, Clayton-Smith Jill, Nickerson Deborah A, Zackai Elaine H, Shaikh Tamim H, Donnai Dian, Niikawa Norio, Shendure Jay, Bamshad Michael J
Abstract excerpt
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently...
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