DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
Titel:
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
Auteur:
White, Janson Mazzeu, Juliana F. Hoischen, Alexander Jhangiani, Shalini N. Gambin, Tomasz Alcino, Michele Calijorne Penney, Samantha Saraiva, Jorge M. Hove, Hanne Skovby, Flemming Kayserili, Hülya Estrella, Elicia Vulto-van Silfhout, Anneke T. Steehouwer, Marloes Muzny, Donna M. Sutton, V. Reid Gibbs, Richard A. Lupski, James R. Brunner, Han G. van Bon, Bregje W.M. Carvalho, Claudia M.B.