Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transcrip
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
β Scribed by Mark C. Hannibal; Kati J. Buckingham; Sarah B. Ng; Jeffrey E. Ming; Anita E. Beck; Margaret J. McMillin; Heidi I. Gildersleeve; Abigail W. Bigham; Holly K. Tabor; Heather C. Mefford; Joseph Cook; Koh-ichiro Yoshiura; Tadashi Matsumoto; Naomichi Matsumoto; Noriko Miyake; Hidefumi Tonoki; Kenji Naritomi; Tadashi Kaname; Toshiro Nagai; Hirofumi Ohashi; Kenji Kurosawa; Jia-Woei Hou; Tohru Ohta; Deshung Liang; Akira Sudo; Colleen A. Morris; Siddharth Banka; Graeme C. Black; Jill Clayton-Smith; Deborah A. Nickerson; Elaine H. Zackai; Tamim H. Shaikh; Dian Donnai; Norio Niikawa; Jay Shendure; Michael J. Bamshad
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 265 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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