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Schimke Immunoosseous Dysplasia Associated with Undifferentiated Carcinoma and a Novel SMARCAL1 Mutation in a Child

Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder of childhood with classical features of spondyloepiphyseal dysplasia, renal failure, and T cell immunodeficiency. SIOD has been associated with several malignancies, including non-Hodgkin lymphoma and osteosarcoma. About...

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Bibliografische gegevens
Hoofdauteurs: Carroll, Clinton, Badu-Nkansah, Akosua, Hunley, Tracy, Baradaran-Heravi, Alireza, Cortez, David, Frangoul, Haydar
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2013
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3713188/
https://ncbi.nlm.nih.gov/pubmed/23630135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.24542
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