Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
Titel:
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
Auteur:
Mumm, Steven Gottesman, Gary S. Wenkert, Deborah Campeau, Philippe M. Nenninger, Angela Huskey, Margaret Bijanki, Vinieth N. Veis, Deborah J. Barnes, Aileen M. Marini, Joan C. Stolina, Marina Zhang, Fan McAlister, William H. Whyte, Michael P.