A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations-Reference-Cited by-同舟云学术

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

Published:2017-06-26 Issue:9 Volume:32 Page:1853-1859
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Pacheco-Cuéllar Guillermo¹,Gauthier Julie²,Désilets Valérie³,Lachance Christian¹,Lemire-Girard Marlène¹,Rypens Françoise⁴,Le Deist Françoise⁵,Decaluwe Hélène¹,Duval Michel¹,Bouron-Dal Soglio Dorothée⁶,Kokta Victor⁶,Haddad Élie¹,Campeau Philippe M¹

Affiliation:

1. Department of Pediatrics; Centre Hospitalier Universitaire Sainte-Justine; Montreal Canada

2. Molecular Diagnostic Laboratory and Division of Medical Genetics; Centre Hospitalier Universitaire Sainte-Justine; Montreal Canada

3. Department of Medical Genetics; Centre Hospitalier Universitaire de Sherbrooke; Sherbrooke Canada

4. Department of Medical Imaging; Centre Hospitalier Universitaire Sainte-Justine; Montreal Canada

5. Department of Microbiology and Immunology; University of Montreal; Montreal Canada

6. Department of Pathology; Centre Hospitalier Universitaire Sainte-Justine; Montreal Canada

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference14 articles.

1. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment;Zhang;J Allergy Clin Immunol,2014

2. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia;Stray-Pedersen;Am J Hum Genet,2014

3. Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1);Pang;Ann Hum Genet,2002

4. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels;Sassi;J Allergy Clin Immunol,2014

5. The linkage relationships of HL-A with other genetic marker systems;Weitkamp;Hum Hered,1975

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