{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:27Z","timestamp":1786976787289,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":4234,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A new ecttodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342\u2013347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further chinical findings to expand the spectrum of this rare syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470624","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:41:37Z","timestamp":1118493697000},"page":"931-933","source":"Crossref","is-referenced-by-count":15,"title":["Uncombable hair, retinal pigmentary distrophy, dental anomalies, and brachydactyly: Report of a new patient with additional findings"],"prefix":"10.1002","volume":"47","author":[{"given":"M.","family":"Silengo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Lerone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Calcagno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Martucciello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Jasonni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"826","volume-title":"Birth Defects Encyclopedia","author":"Bleeker\u2010Wagemakers EM","year":"1986"},{"key":"e_1_2_1_3_1","first-page":"342","article-title":"Famil\u00e4re kongenitale Hypotrichose mit \u201cunkammbaren Haaren\u201d, Retina\u2010pigmentblattdystrophie, juveniler Katarakt und Brachymetakarpie: eine weitere Entit\u00e4t aus der Gruppe der ektodermalen Dysplasien","volume":"38","author":"Bork K","year":"1987","journal-title":"Hautarzt"},{"key":"e_1_2_1_4_1","first-page":"111","article-title":"\u201cCheveaux incoiffables,\u201d anomalies cong\u00e9nitale des cheveaux","volume":"80","author":"Dupr\u00e9 A","year":"1973","journal-title":"Bull Soc Fr Dermatol"},{"key":"e_1_2_1_5_1","volume-title":"Ectodermal Dysplasias: A Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1984"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280126"},{"key":"e_1_2_1_7_1","first-page":"403","article-title":"Autosomal dominant ectodermal dysplasia","volume":"7","author":"Jorgenson RJ","year":"1987","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440208"},{"key":"e_1_2_1_9_1","first-page":"149","article-title":"Rapp\u2010Hodgkin syndrome: observation on ten cases and characteristic hair changes (pili canaliuli)","volume":"24","author":"Salinas CF","year":"1988","journal-title":"Birth Defects"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01854763"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470624","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470624","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T03:19:27Z","timestamp":1698203967000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470624"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,11]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993,11]]}},"alternative-id":["10.1002\/ajmg.1320470624"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470624","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,11]]}}}