Mutations in CDK5RAP2 cause Seckel syndrome

Por Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Publicado no Mol Genet Genomic Med (2015)

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

Por Kraft, Michael, Cirstea, Ion Cristian, Voss, Anne Kathrin, Thomas, Tim, Goehring, Ina, Sheikh, Bilal N., Gordon, Lavinia, Scott, Hamish, Smyth, Gordon K., Ahmadian, Mohammad Reza, Trautmann, Udo, Zenker, Martin, Tartaglia, Marco, Ekici, Arif, Reis, André, Dörr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian Thomas
Publicado em 2011