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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

✍ Scribed by Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; Cueto-González, AM; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, SM; Hoyer, J; Yntema, HG; Kets, CM; Koolen, DA; Marcelis, CL; Medeira, A; Micale, L; Mohammed, S; de Munnik, SA; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, HG; Schoumans, J; Schuurs-Hoeijmakers, JHM; Silengo, MC; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, RC; Perez-Jurado, L; Dupont, J; de Vries, BBA; Brunner, HG; Veltman, JA; Merla, G; Antonarakis, SE; Hoischen, A

Book ID
121191001
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
811 KB
Volume
84
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