In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Author:
Virginie Carmignac,Julien Thevenon,Lesley Adès,Bert Callewaert,Sophie Julia,Christel Thauvin-Robinet,Lucie Gueneau,Jean-Benoit Courcet,Estelle Lopez,Katherine Holman,Marjolijn Renard,Henri Plauchu,Ghislaine Plessis,Julie De Backer,Anne Child et al.
Publication:
The American Journal of Human Genetics
Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.