{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T21:34:14Z","timestamp":1757540054972},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8007,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have estimated that 83% of individuals carrying the gene for Waardenburg syndrome type I show penetrance of the gene as measured by dystopia canthorum. This is lower than previous estimates, which failed to consider the frequency of equivocal dystopia in the general population. The addition of three other major signs (hearing loss, white forelock, and premature graying of the hair or vitiligo) does not substantially increase the discrimination of gene carriers (85% versus 83%). We estimate that about 75% of the first\u2010degree relatives of probands can be assigned as normal or a gene carrier on the basis of the four major signs.<\/jats:p>","DOI":"10.1002\/ajmg.1320150303","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:52:39Z","timestamp":1118515959000},"page":"383-388","source":"Crossref","is-referenced-by-count":15,"title":["Waardenburg syndrome\u2014penetrance of major signs"],"prefix":"10.1002","volume":"15","author":[{"given":"M.","family":"Preus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Linstrom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. C.","family":"Polomeno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Milot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","series-title":"Birth Defects: Original Article Series VII(4)","first-page":"87","volume-title":"In the Waardenburg syndrome","author":"Arias S","year":"1971"},{"key":"e_1_2_1_3_1","first-page":"101","article-title":"Apparent non\u2010penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum","volume":"26","author":"Arias S","year":"1978","journal-title":"J Genet Hum"},{"key":"e_1_2_1_4_1","first-page":"254","article-title":"Some statistical problems posed by Waardenburg's data on dystopia canthorum and associated anomalies","volume":"3","author":"Cotterman CW","year":"1951","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(60)80159-X"},{"key":"e_1_2_1_6_1","volume-title":"The Causes of Profound Deafnes. In Childhood","author":"Fraser GR","year":"1976"},{"key":"e_1_2_1_7_1","first-page":"468","article-title":"Heterogeneity in Waardenburg syndrome","volume":"29","author":"Hageman MJ","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100084073"},{"issue":"5","key":"e_1_2_1_9_1","first-page":"207","article-title":"Penetrance and variability of major malformation syndromes associated with deafness","author":"Pinsky L","year":"1979","journal-title":"Birth Defects:Original Article Series"},{"key":"e_1_2_1_10_1","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320150303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320150303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:48:21Z","timestamp":1695775701000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320150303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,7]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1983,7]]}},"alternative-id":["10.1002\/ajmg.1320150303"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320150303","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,7]]}}}