{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:40:05Z","timestamp":1760762405483,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,8]]},"DOI":"10.1136\/jmg.17.4.325-b","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"325.3-326","source":"Crossref","is-referenced-by-count":0,"title":["Tuberous Sclerosis."],"prefix":"10.1136","volume":"17","author":[{"given":"R A","family":"Pagon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/BF00344210","article-title":"Unrecognized atypical tuberous sclerosis diagnosed by computerized tomography","volume":"13","author":"Barry, JR, Harwood-Nash; DC, Fritz; CR, Byrd; S.E.","year":"1977","unstructured":"Barry JR, Harwood-Nash DC, Fritz CR, Byrd SE. Unrecognized atypical tuberous sclerosis diagnosed by computerized tomography. Neuroradiology 1977;13: 177-80.","journal-title":"Neuroradiology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1055\/s-0028-1091528","article-title":"Cranial computertomography in children with tuberous sclerosis","volume":"8","author":"Kyhlendahl, H.D.; Gross-Selbeck, G.; Doose, H.; Kling, H.; Jensen, H.P.","year":"1977","unstructured":"Kyhlendahl HD, Gross-Selbeck G, Doose H, Kling H, Jensen HP. Cranial computertomography in children with tuberous sclerosis. Neuropadiatrie 1977;8:325-32.","journal-title":"Neuropadiatrie"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1136\/jmg.16.1.32","article-title":"Congenital hypothyroidism and Kijnefelter's syndrome Reference 1 Rushton AR, Shaywitz BA. Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene","volume":"16","year":"1979","unstructured":"Congenital hypothyroidism and Kijnefelter's syndrome Reference 1 Rushton AR, Shaywitz BA. Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.J Med Genet 1979;16:32-5.","journal-title":"J Med Genet"},{"key":"ref_4","article-title":"The paper by Campbell and Price (JMG","volume-title":"and Turner's syndrome.2; overlooks the recognised association of autoimmune thyroiditis with abnormal chromosomal states such as Down's syndrome","author":"SIR","year":"1979","unstructured":"SIR, The paper by Campbell and Price (JMG, December 1979) overlooks the recognised association of autoimmune thyroiditis with abnormal chromosomal states such as Down's syndrome' and Turner's syndrome.2"},{"key":"ref_5","unstructured":"The case histories in the paper do not preclude an acquired autoimmune thyroiditis as a cause of the hypothyroidism with onset in infancy or early childhood. Hashimoto's disease may be present in young patients with lower antibody titres, and therefore low titres do not exclude the diagnosis.3 Case 4 with presentation at the age of 7 years and a bone age of 2 5 years is not 'congenital hypothyroidism'. Consequently, there must be considerable doubt about the validity of the authors' concept of the association between congenital hypothyroidism and Klinefelter's syndrome.","article-title":"The case histories in the paper do not preclude an acquired autoimmune thyroiditis as a cause of the hypothyroidism with onset in infancy or early childhood. Hashimoto's disease may be present in young patients with lower antibody titres, and therefore low titres do not exclude the diagnosis.3 Case 4 with presentation at the age of 7 years and a bone age of 2 5 years is not 'congenital hypothyroidism'. Consequently, there must be considerable doubt about the validity of the authors'"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.4.325-b","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:19:37Z","timestamp":1760761177000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.4.325-b"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,8]]},"references-count":5,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1980,8,1]]},"published-print":{"date-parts":[[1980,8]]}},"alternative-id":["10.1136\/jmg.17.4.325-b"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.4.325-b","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,8]]}}}