Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.

Carroll C, Badu-Nkansah A, Hunley T, Baradaran-Heravi A, Cortez D, Frangoul H
Pediatr Blood Cancer. 2013 60 (9): E88-90

PMID: 23630135 · PMCID: PMC3713188 · DOI:10.1002/pbc.24542

MeSH Terms (14)

Amino Acid Substitution Arteriosclerosis Carcinoma Child, Preschool DNA Helicases Humans Immunologic Deficiency Syndromes Male Mutation, Missense Nephrotic Syndrome Nose Neoplasms Osteochondrodysplasias Primary Immunodeficiency Diseases Pulmonary Embolism

Connections (3)

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