Publication
A Novel PGM3
Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations
PGM3
MUTATION ASSOCIATED WITH SEVERE MALFORMATIONS
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bouron-Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Journal of Bone and Mineral Research, June 2017, Wiley
DOI: 10.1002/jbmr.3173