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Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.

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Detalhes bibliográficos
Publicado no:J Pediatr
Main Authors: Hoover-Fong, Julie, Savage, William J., Lisi, Emily, Winkelstein, Jerry, Thomas, George H., Hoefsloot, Lies H., Loeb, David M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4293037/
https://ncbi.nlm.nih.gov/pubmed/19187738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2008.07.049
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