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Identification of the first patient with a confirmed mutation of the JAK-STAT system.
Rosenfeld RG, Kofoed E, Buckway C, Little B, Woods KA, Tsubaki J, Pratt KA, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Hwa V. Rosenfeld RG, et al. Among authors: little b. Pediatr Nephrol. 2005 Mar;20(3):303-5. doi: 10.1007/s00467-004-1678-7. Epub 2005 Feb 2. Pediatr Nephrol. 2005. PMID: 15688233 Review.
Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.
Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG. Fang P, et al. J Clin Endocrinol Metab. 2007 Jun;92(6):2223-31. doi: 10.1210/jc.2006-2624. Epub 2007 Apr 3. J Clin Endocrinol Metab. 2007. PMID: 17405847
Growth hormone insensitivity associated with a STAT5b mutation.
Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG. Kofoed EM, et al. Among authors: little b. N Engl J Med. 2003 Sep 18;349(12):1139-47. doi: 10.1056/NEJMoa022926. N Engl J Med. 2003. PMID: 13679528 Free article. No abstract available.
735 results