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MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

✍ Scribed by S Banka; E Howard; S Bunstone; KE Chandler; B Kerr; K Lachlan; S McKee; SG Mehta; ALT Tavares; J Tolmie; D Donnai

Book ID
119839687
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
742 KB
Volume
83
Category
Article
ISSN
0009-9163

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MLL2 mutation spectrum in 45 patients wi
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
✍ Aimée D. C. Paulussen; Alexander P. A. Stegmann; Marinus J. Blok; Demis Tserpeli 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 1 views

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