{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T23:46:40Z","timestamp":1777592800287,"version":"3.51.4"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,5]]},"abstract":"<jats:p>Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.<\/jats:p>","DOI":"10.1136\/jmg.32.5.393","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"393-395","source":"Crossref","is-referenced-by-count":10,"title":["Phenotypic variability in patients with generalised resistance to thyroid hormone."],"prefix":"10.1136","volume":"32","author":[{"given":"J","family":"Pohlenz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Wirth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Winterpacht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Wemme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Zabel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Sch\u00f6nberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,5,1]]},"reference":[{"key":"ref_1","first-page":"279","article-title":"Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible organ refractoriness to thyroid hormone","volume-title":"I Clin Endocnrnol","volume":"27","author":"Refetoff, S.; DeWind, L.T.; DeGroot, L.J.","year":"1967","unstructured":"Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible organ refractoriness to thyroid hormone. I Clin Endocnrnol 1967;27:279-94."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/0002-9343(93)90155-I","article-title":"Thyroid hormone resistance syndromes","volume":"94","author":"MacDermott, M.T.; Ridgway, E.C.","year":"1993","unstructured":"MacDermott MT, Ridgway EC. Thyroid hormone resistance syndromes. Am.7 Med 1993;94:424-32.","journal-title":"Am.7 Med"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1210\/mend-2-12-1217","article-title":"Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA-beta gene","volume":"2","author":"Usala, S.J.; Bale, A.E.; Gesundheit, N.","year":"1988","unstructured":"Usala SJ, Bale AE, Gesundheit N, et al. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA-beta gene. Mol Endocrinol 1988;2: 1217-20.","journal-title":"Mol Endocrinol"},{"key":"ref_4","first-page":"2408","article-title":"Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene","volume-title":"I Clin Invest","volume":"91","author":"Weiss, R.E.; Weinberg, M.; Refetoff, S.","year":"1993","unstructured":"Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. I Clin Invest 1993;91: 2408-15."},{"key":"ref_5","first-page":"1039","article-title":"Correlations of language abnormalities with localization of mutations in the 3-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations..7 Clin Endocrino\/ Metab","volume":"75","author":"Mixon, A.J.; Parrilla, R.; Ransom, S.C.","year":"1992","unstructured":"Mixon AJ, Parrilla R, Ransom SC, et al. Correlations of language abnormalities with localization of mutations in the 3-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations..7 Clin Endocrino\/ Metab 1992;75: 1039-45."},{"key":"ref_6","first-page":"2123","article-title":"Characterisation of seven novel mutations of the c-erbA 3 gene in unrelated kindreds with generalized thyroid hormone resistance","volume":"88","author":"Parrilla, R.; Mixon, A.J.; McPherson, J.A.; McClaskev, J.H.; Weintraub, B.D.","year":"1991","unstructured":"Parrilla R, Mixon AJ, McPherson JA, McClaskev JH, Weintraub BD. Characterisation of seven novel mutations of the c-erbA 3 gene in unrelated kindreds with generalized thyroid hormone resistance. _7 Clin Invest 1991;88:2123-30."},{"key":"ref_7","first-page":"1254","article-title":"Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-P. _7 Clin Endocrinol Metab","volume":"76","author":"Sasaki, S.; Nakamura, H.; Tagami, T.","year":"1993","unstructured":"Sasaki S, Nakamura H, Tagami T, et al. Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-P. _7 Clin Endocrinol Metab 1993; 76: 1254-8."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1172\/JCI116458","article-title":"Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone","volume":"91","author":"Mixon, A.J.; Hauser, P.; Tennyson, G.; Renault, J.C.; Bodenner, D.L.; Weintraub, B.D.","year":"1993","unstructured":"Mixon AJ, Hauser P, Tennyson G, Renault JC, Bodenner DL, Weintraub BD. Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.. Clin Invest 1993;91:2296-300.","journal-title":"Clin Invest"},{"key":"ref_9","first-page":"64","article-title":"The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonuleic acid products","volume":"76","author":"Hayashi, Y.; Janssen, O.E.; Weiss, R.E.; Murata, Y.; Seo, H.; Refetoff, S.","year":"1993","unstructured":"Hayashi Y, Janssen OE, Weiss RE, Murata Y, Seo H, Refetoff S. The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonuleic acid products. _7 Clin Endocrinol Metab 1993;76:64-9."},{"key":"ref_10","first-page":"257","article-title":"Multiple genetic factors in the heterogeneity of thyroid hormone resistance. _7 Clin","volume":"76","author":"Weiss, R.E.; Marcocci, C.; Bruno-Bossio, G.; Refetoff, S.","year":"1993","unstructured":"Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. _7 Clin Endocrinol Metab 1993;76:257-9.","journal-title":"Endocrinol Metab"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.5.393","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:59:59Z","timestamp":1760727599000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.5.393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,5]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1995,5,1]]},"published-print":{"date-parts":[[1995,5]]}},"alternative-id":["10.1136\/jmg.32.5.393"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.5.393","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,5]]}}}