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甲状腺激素不敏感综合征1例报告

Report on case with thyroid hormone resistance syndrome.
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作者 王青平
出处 《中国热带医学》 CAS 2007年第2期254-254,共1页 China Tropical Medicine
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  • 1Refetoff S, Dewind LT, DeGroot LJ, et al. Familial syndrome combining deaf mutism stuppled epiphysis, goiter and abnormalit high protein-bound iodine. J Clin Endocrinol Metab, 1967,27:279-294. 被引量:1
  • 2Sakurai A, Takeda K, Ain K, et al. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β. Proc Natl Acad Sci USA, 1989, 86:8977-8981. 被引量:1
  • 3Nagay T, Seo H, Molecular basis of resistance to thyroid hormone (RTH). Endocr J, 1998,45:709-718. 被引量:1
  • 4Collingwood TN, Adams M, Tone Y, et al. Spectrum of transcriptional, dimerization and dominant negative properties of twenty different mutant thyroid hormone β-receptors in thyroid hormone resistance syndrome. Mol Endocrinol, 1994,8:1262-1277. 被引量:1
  • 5Margotat A, Sarkissian G, Malezet-Desmoulins C, et al. Identification of eight new mutations in the c-cerb A beta gene of patients with resistance to thyroid hormone. Ann Endocrinol, 2001,62:220-225. 被引量:1
  • 6Chatterjee VKK, Clifton-Bright RJ, Gurnell M. Thyroid Hormone Resistance. In: Jameson JL, (ed). Contemporary endocrinology: hormone resistance syndromes. Totowa, NJ: Human Press, 1999,145-164. 被引量:1
  • 7Chatterjee VKK, Nagaya T, Madison LD, et al. Thyroid hormone resistance syndrome: inhibition of normal receptor function by mutant thyroid hormone receptors. J Clin Invest, 1991,87:1977-1984. 被引量:1
  • 8Refetoff S. Syndrome of thyroid hormone resistance. Am J physiol, 1982,243:E88-98. 被引量:1
  • 9Brucker-Davis F, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institute of Health Prospective Stydy. Ann Intern Med, 1995,123:572-583. 被引量:1
  • 10Weiss RE, Tunca H, Gerstein HC, et al. A new mutation in the thyroid hormone receptor (TR) β gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid, 1996, 6:311-312. 被引量:1

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