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

Volumn 32, Issue 9, 2017, Pages 1853-1859

  Pacheco Cuéllar, Guillermo ^a   Gauthier, Julie ^a   Désilets, Valérie ^b   Lachance, Christian ^a   Lemire Girard, Marlène ^a   Rypens, Françoise ^a   Le Deist, Françoise ^c   Decaluwe, Hélène ^a   Duval, Michel ^a   Bouron Dal Soglio, Dorothée ^a   Kokta, Victor ^a   Haddad, Élie ^a   Campeau, Philippe M ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

BONE MARROW FAILURE; CONGENITAL DISORDER OF GLYCOSYLATION; DESBUQUOIS LIKE DYSPLASIA; PGM3; SEVERE COMBINED IMMUNODEFICIENCY; WHOLE EXOME SEQUENCING

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; ISOMERASE; PHOSPHOGLUCOMUTASE 3; UNCLASSIFIED DRUG; PGM3 PROTEIN, HUMAN; PHOSPHOGLUCOMUTASE;

AMNIOCENTESIS; ANEMIA; ANTIMICROBIAL THERAPY; ARTICLE; BLOOD CELL COUNT; BONE DYSPLASIA; BONE MARROW DEPRESSION; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MALFORMATION; DISEASE COURSE; ERYTHROCYTE TRANSFUSION; FATALITY; FEMALE; FETUS ECHOGRAPHY; GENE; GENE MUTATION; GENETIC SCREENING; GESTATIONAL AGE; HORSESHOE KIDNEY; HUMAN; INTESTINE OBSTRUCTION; LUNG HYPOPLASIA; LYMPHOCYTOPENIA; MACROCEPHALY; MALE; NEUTROPENIA; NEWBORN; PERSISTENT PULMONARY HYPERTENSION; PGM3 GENE; PHENOTYPE; SEVERE COMBINED IMMUNODEFICIENCY; SIBLING; THROMBOCYTOPENIA; WHOLE EXOME SEQUENCING; BONE MARROW DISEASE; GENETICS; MUSCULOSKELETAL SYSTEM MALFORMATION; MUTATION;

BONE DISEASES, DEVELOPMENTAL; BONE MARROW DISEASES; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUSCULOSKELETAL ABNORMALITIES; MUTATION; PHOSPHOGLUCOMUTASE; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 85021433700     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.3173     Document Type: Article

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