Publisher
Springer Science and Business Media LLC
Subject
Pharmacology,Genetics,Molecular Medicine,General Medicine
Reference153 articles.
1. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967;27:279–94.
2. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014;24:407–9.
3. Weiss E, Dumitrescu A, Refetoff S. Syndromes of impaired sensitivity to thyroid hormone. In: Weiss RE, Refetoff S, editors. Genetic diagnosis of endocrine disorders, second editon. Amsterdam: Elsevier Inc; 2016.
4. Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, et al. A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012;366:243–9.
5. Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ. Clinical and molecular characteristics of SLC16A2 (MCT8) mutations in three families with the Allan-Herndon-Dudley syndrome. Hum Mutat. 2017;38:260–4.
Cited by
17 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献