{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T09:21:25Z","timestamp":1648891285951},"reference-count":9,"publisher":"Cambridge University Press (CUP)","issue":"4","license":[{"start":{"date-parts":[[2014,8,1]],"date-time":"2014-08-01T00:00:00Z","timestamp":1406851200000},"content-version":"unspecified","delay-in-days":17836,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta genet. med. gemellol."],"published-print":{"date-parts":[[1965,10]]},"abstract":"<jats:title>SUMMARY<\/jats:title><jats:p>In a family with 528 members, in 7 generations, 162 (47% of the 347 examined patients) showed a Waardenburg syndrome. The frequencies of the different signs are as follows: lateral displacement of the canthi interni and lacrimal puncta: 76%; hyperplasia of the nose root: 54%; hyperplasia of the eyebrows: 52%; deafness: 9%; heterochromia of the iris: 9%; partial albinism: 6%.<\/jats:p>","DOI":"10.1017\/s1120962300015079","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T05:47:22Z","timestamp":1469598442000},"page":"353-375","source":"Crossref","is-referenced-by-count":8,"title":["Syndrome de Waardenburg - Klein"],"prefix":"10.1017","volume":"14","author":[{"given":"J.","family":"Fran\u00e7ois","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Kluyskens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. TH.","family":"Matton-Van Leuven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Manavian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Rysenaer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2014,8,1]]},"reference":[{"key":"S1120962300015079_ref009","volume-title":"Clinical Neuro-Ophthalmology","author":"Walsh","year":"1947"},{"key":"S1120962300015079_ref003","first-page":"38","article-title":"Albinisme partiel (leucisme) avec surdi-mutit\u00e9, bl\u00e9pharophimosis et dysplasie myo-osteo-articulaire","volume":"5","author":"Klein","year":"1950","journal-title":"Helvet Paediat. Acta"},{"key":"S1120962300015079_ref001","first-page":"816","article-title":"Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness and other characteristic associated defects","volume":"64","author":"Di George","year":"1960","journal-title":"Trans. Amer. Acad. Ophthal."},{"key":"S1120962300015079_ref007","first-page":"379","article-title":"A new syndrome: Bl\u00e9pharophimosis with distopia canthi medialis Iateroversa, hypertrichosis supercilii, a strand of white hair, heterochromia iridum and deafmutism","volume":"1","author":"Waardenburg","year":"1950","journal-title":"Acta XVI Concilium Ophthalmologicum (Britannia)"},{"key":"S1120962300015079_ref006","first-page":"232","article-title":"Abnorme L\u00e4nge der Tr\u00e4nenr\u00f6rchen mit Ankyloblepharon","volume":"56","author":"Van Der Hoeve","year":"1916","journal-title":"Klin. Monatsbl. Augenh."},{"key":"S1120962300015079_ref008","first-page":"195","article-title":"A new symdrome 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","year":"1951","journal-title":"Am. J. Human Genet."},{"key":"S1120962300015079_ref002","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100055420"},{"key":"S1120962300015079_ref004","first-page":"270","volume":"12","author":"Klenka","year":"1956","journal-title":"Waardenburg's syndrome \u2013 Gsl. Ofthal."},{"key":"S1120962300015079_ref005","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1962.tb07835.x"}],"container-title":["Acta geneticae medicae et gemellologiae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1120962300015079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,3]],"date-time":"2019-06-03T15:27:04Z","timestamp":1559575624000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1120962300015079\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1965,10]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1965,10]]}},"alternative-id":["S1120962300015079"],"URL":"https:\/\/doi.org\/10.1017\/s1120962300015079","relation":{},"ISSN":["1120-9623","2059-6316"],"issn-type":[{"value":"1120-9623","type":"print"},{"value":"2059-6316","type":"electronic"}],"subject":[],"published":{"date-parts":[[1965,10]]}}}