{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:08:21Z","timestamp":1760897301309,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,4,1]]},"DOI":"10.1136\/jmg.37.4.312","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:34:46Z","timestamp":1027751686000},"page":"312-314","source":"Crossref","is-referenced-by-count":4,"title":["Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy"],"prefix":"10.1136","volume":"37","author":[{"given":"RAVI","family":"SAVARIRAYAN","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R J MCKINLAY","family":"GARDNER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"RODNEY D","family":"SINCLAIR","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MINDY","family":"MCDOWELL","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JAMES E","family":"CLEAVER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,4,1]]},"reference":[{"key":"2025101713352604000_37.4.312.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1985.tb02078.x"},{"key":"2025101713352604000_37.4.312.2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0282(199707)42:1<7::AID-BIP2>3.0.CO;2-S"},{"key":"2025101713352604000_37.4.312.3","doi-asserted-by":"crossref","unstructured":"Strydom DJ Cohen SA (1993) Sensitive analysis of cystine\/cysteine using 6-aminoquinolyl-N-hydroxysuccinimidyl carbamate (AQC) derivatives. in Techniques in protein chemistry IV. ed Angeletti RH (Academic Press, San Diego), pp 299\u00e2\u0080\u0093306.","DOI":"10.1016\/B978-0-12-058757-5.50037-8"},{"key":"2025101713352604000_37.4.312.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X"},{"key":"2025101713352604000_37.4.312.5","unstructured":"Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Hum Mutat (in press).."},{"key":"2025101713352604000_37.4.312.6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00019605-199401000-00001","article-title":"Syndromes associated with trichothiodystrophy.","volume":"3","author":"Tolmie","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"2025101713352604000_37.4.312.7","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1159\/000247345","article-title":"A new case of isolated trichothiodystrophy.","volume":"186","author":"Alfandari","year":"1993","journal-title":"Dermatology"},{"key":"2025101713352604000_37.4.312.8","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1998.02331.x"},{"key":"2025101713352604000_37.4.312.9","first-page":"320","article-title":"A mutation in the XPB\/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.","volume":"60","author":"Weeda","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025101713352604000_37.4.312.10","doi-asserted-by":"publisher","DOI":"10.1038\/368769a0"},{"key":"2025101713352604000_37.4.312.11","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/14.6.1101"},{"key":"2025101713352604000_37.4.312.12","first-page":"263","article-title":"Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy.","volume":"58","author":"Takayama","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025101713352604000_37.4.312.13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.6.1125"},{"key":"2025101713352604000_37.4.312.14","doi-asserted-by":"crossref","unstructured":"Robbins CR (1994) Chemical and physical behaviour of human hair. (Springer-Verlag, New York), 3rd ed..","DOI":"10.1007\/978-1-4757-3898-8"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.37.4.312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:35:35Z","timestamp":1760733335000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.37.4.312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,4,1]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2000,4,1]]},"published-print":{"date-parts":[[2000,4,1]]}},"alternative-id":["10.1136\/jmg.37.4.312"],"URL":"https:\/\/doi.org\/10.1136\/jmg.37.4.312","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[2000,4,1]]}}}