{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:12:13Z","timestamp":1787170333115,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":6028,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present 13 cases of thanatophoric dysplasia collected in the Spanish Collaborative Study of Congenital Malformations from a total population of 517,970 births. The incidence (live and stillbirth) was 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity. Parental age was significantly higher as compared with control parents. These findings suggest the occurrence of autosomal dominant mutation, with an overall mutation rate of 1.34 \u00d7 10\n                    <jats:sup>\u22125<\/jats:sup>\n                    in our population, which is close to that observed in achondroplasia.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.1320310414","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:53:04Z","timestamp":1118523184000},"page":"815-820","source":"Crossref","is-referenced-by-count":40,"title":["Thanatophoric dysplasia: An autosomal dominant condition?"],"prefix":"10.1002","volume":"31","author":[{"given":"M. L.","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Ramos\u2010Arroyo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Salvador","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1959.tb01728.x"},{"key":"e_1_2_1_3_1","first-page":"181","article-title":"Genetic study of thanatophoric dwarfism","volume":"17","author":"Bouvet JP","year":"1974","journal-title":"Ann Hum Genet"},{"key":"e_1_2_1_4_1","first-page":"441","volume-title":"Skeletal Dysplasias","author":"Camera G","year":"1982"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.3.227"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)91922-2"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220205"},{"key":"e_1_2_1_8_1","first-page":"515","article-title":"Familial recurring thanatophoric dwarfism","volume":"39","author":"Graff G","year":"1972","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_9_1","first-page":"307","article-title":"Different types of osteochondrodysplasia in a consecutive series of newborns","volume":"30","author":"Gustavson KH","year":"1975","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1971.tb00257.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb01477.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80140-7"},{"key":"e_1_2_1_13_1","first-page":"719","article-title":"Statistical aspects of the analysis of data from retrospective studies of disease","volume":"22","author":"Mantel N","year":"1959","journal-title":"J Natl Cancer Inst"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420290308"},{"key":"e_1_2_1_15_1","first-page":"2519","article-title":"Le nanisme thanatophore","volume":"75","author":"Maroteaux P","year":"1967","journal-title":"Presse Med"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1970.tb01648.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(55)92305-9"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1542\/peds.51.1.104","article-title":"The genetics of thanatophoric dwarfism","volume":"51","author":"Pena SD","year":"1973","journal-title":"Pediatrics"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-9068-2_1"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)92066-2"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/S0031-3955(16)33600-8","article-title":"Neonatal dwarfism","volume":"25","author":"Silence DO","year":"1978","journal-title":"Pediatr Clin N Am"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-9068-2_4"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320310414","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320310414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T16:36:52Z","timestamp":1697992612000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320310414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,12]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1988,12]]}},"alternative-id":["10.1002\/ajmg.1320310414"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320310414","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,12]]}}}