Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

by Teresa Romeo Luperchio, Carolyn D. Applegate, Olaf Bodamer, Hans Tomas Bjornsson
Published 2020-02-01

A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.

by Astridur Palsdottir, Agnar Helgason, Snaebjorn Palsson, Hans Tomas Bjornsson, Birkir Thor Bragason, Solveig Gretarsdottir, Unnur Thorsteinsdottir, Elias Olafsson, Kari Stefansson
Published 2008-06-01

Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome

by Li Zhang, Genay Pilarowski, Emilio Merlo Pich, Atsushi Nakatani, John Dunlop, Rina Baba, Satoru Matsuda, Masaki Daini, Yasushi Hattori, Shigemitsu Matsumoto, Mitsuhiro Ito, Haruhide Kimura, Hans Tomas Bjornsson
Published 2021-03-01