{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T05:30:28Z","timestamp":1778304628243,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6553,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A patient with Waardenburg syndrome type II associated with Hirschsprung megacolon and Marcus Gunn ptosis is presented. It is suggested that these different anomalies are manifestations of the same neurocrestopathy.<\/jats:p>","DOI":"10.1002\/ajmg.1320270322","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:57:20Z","timestamp":1118545040000},"page":"683-686","source":"Crossref","is-referenced-by-count":26,"title":["Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis"],"prefix":"10.1002","volume":"27","author":[{"given":"F.","family":"Meire","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Standaert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. J.","family":"De Laey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. H.","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","series-title":"BD:OAS","first-page":"87","volume-title":"Genetic heterogeneity in the Waardenburg syndrome","author":"Arias S","year":"1971"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060109"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(74)80021-3"},{"key":"e_1_2_1_5_1","first-page":"417","article-title":"Sindromo di Waardenburg. Displasia interoculo\u2010irido\u2010dermato\u2010auditivo","volume":"36","author":"Ferrer J","year":"1965","journal-title":"Arch P\u00e9diatr Uruguay"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1399-0004.1980.tb01371.x","article-title":"Letter to the editor: Waardenburg's syndrome and Hirschsprung's disease in the same patient","volume":"18","author":"Fried K","year":"1980","journal-title":"Clin Genet"},{"key":"e_1_2_1_7_1","first-page":"65A","article-title":"Congenital deafness, Hirschsprung's and Waardenburg syndrome","volume":"33","author":"Kelley RI","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.62.7.491"},{"key":"e_1_2_1_9_1","first-page":"157","volume-title":"The Neural Crest","author":"Le Douarin N","year":"1982"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030302"},{"key":"e_1_2_1_11_1","first-page":"1008","article-title":"Waardenburg's syndrome and heterochromia iridum in a deaf school population","volume":"90","author":"Partington MW","year":"1964","journal-title":"Can Med Assoc J"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150303"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1967.01600320032005"},{"key":"e_1_2_1_14_1","first-page":"29","article-title":"Trigemino\u2010oculomotor synkinesis","volume":"1","author":"Sano K","year":"1959","journal-title":"Neurologia"},{"key":"e_1_2_1_15_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 headhair and with congenital deafness","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Hered"},{"key":"e_1_2_1_16_1","first-page":"573","article-title":"Embryogenesis of the enteric ganglia in normal mouse and in mouse that develop congenital aganglionic megacolon","volume":"30","author":"Webster W","year":"1973","journal-title":"J Embryol Exp Morphol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270322","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T16:27:53Z","timestamp":1706286473000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,7]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,7]]}},"alternative-id":["10.1002\/ajmg.1320270322"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270322","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,7]]}}}