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A mutation screen in patients with Kabuki syndrome

✍ Scribed by Yun Li; Nina Bögershausen; Yasemin Alanay; Pelin Özlem Simsek Kiper; Nadine Plume; Katharina Keupp; Esther Pohl; Barbara Pawlik; Martin Rachwalski; Esther Milz; Michaela Thoenes; Beate Albrecht; Eva-Christina Prott; Margret Lehmkühler; Stephanie Demuth; Gülen Eda Utine; Koray Boduroglu; Katja Frankenbusch; Guntram Borck; Gabriele Gillessen-Kaesbach; Gökhan Yigit; Dagmar Wieczorek; Bernd Wollnik

Book ID
106135133
Publisher
Springer
Year
2011
Tongue
English
Weight
442 KB
Volume
130
Category
Article
ISSN
0340-6717

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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