Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

Steven Mumm, Gary S. Gottesman, Deborah Wenkert, Philippe M. Campeau, Angela Nenninger, Margaret Huskey, Vinieth N. Bijanki, Deborah J. Veis, Aileen M. Barnes, Joan C. Marini, Marina Stolina, Fan Zhang, William H. McAlister, Michael P. Whyte

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Medicine & Life Sciences