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

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