Bone marrow transplantation in Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in SMARCAL1 (SWI/SNF-related...

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Bibliografiske detaljer
Main Authors: Baradaran-Heravi, Alireza, Lange, Jonas, Asakura, Yumi, Cochat, Pierre, Massella, Laura, Boerkoel, Cornelius F.
Format: Artigo
Sprog:Inglês
Udgivet: 2013
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3788057/
https://ncbi.nlm.nih.gov/pubmed/23950031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36111
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