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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.
709 results