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Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D. Gennery AR, et al. Among authors: slatter ma. Clin Exp Immunol. 2008 Jul;153(1):75-80. doi: 10.1111/j.1365-2249.2008.03681.x. Epub 2008 May 26. Clin Exp Immunol. 2008. PMID: 18505430 Free PMC article.
Bone marrow transplantation for Nijmegan breakage syndrome.
Gennery AR, Slatter MA, Bhattacharya A, Jeggo PA, Abinun M, Flood TJ, Cant AJ. Gennery AR, et al. Among authors: slatter ma. J Pediatr Hematol Oncol. 2005 Apr;27(4):239. doi: 10.1097/01.mph.0000158257.45823.80. J Pediatr Hematol Oncol. 2005. PMID: 15838402 No abstract available.
172 results