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Congenital T cell deficiency in a patient with CHARGE syndrome.
|Title||Congenital T cell deficiency in a patient with CHARGE syndrome.|
|Publication Type||Journal Article|
|Year of Publication||2009|
|Authors||Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM|
|Journal||The Journal of pediatrics|
|Date Published||2009 Jan|
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.
|Alternate Journal||J. Pediatr.|