Article
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2017
Pacheco-Cuéllar Guillermo, Gauthier Julie, Désilets Valérie, Lachance Christian, Lemire-Girard Marlène, Rypens Françoise, Le Deist Françoise, Decaluwe Hélène, Duval Michel, Bouron-Dal Soglio Dorothée, Kokta Victor, Haddad Élie, Campeau Philippe M
Abstract excerpt
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein that converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported....
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