{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:14:18Z","timestamp":1764688458014},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4481,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple caf\u00e9\u2010au\u2010lait spots have been observed in successive generations of several families without any other manifestations of neuro\u2010fibromatosis (NF) or any other systemic disorder. The caf\u00e9\u2010au\u2010lait spots in these families segregate as an autosomal dominant trait. The relationship (if any) between the gene for this trait and the NF\u20101 gene has previously been unknown. We describe a family with five individuals spanning four generations with dominantly inherited caf\u00e9\u2010au\u2010lait spots, without any other stigmata of NF\u20101. Linkage analysis with probes proximal, distal, and within the NF\u20101 gene indicate that the trait in this family is not linked to NF\u20101. We propose that this condition be called Familial Caf\u00e9\u2010Au\u2010Lait Spots (FCAL) to distinguish it from the neuro\u2010fibromatosis syndromes. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450518","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:48:59Z","timestamp":1118508539000},"page":"606-608","source":"Crossref","is-referenced-by-count":42,"title":["Autosomal dominant multiple caf\u00e9\u2010au\u2010lait spots and neurofibromatosis\u20101: Evidence of non\u2010linkage"],"prefix":"10.1002","volume":"45","author":[{"given":"Joel","family":"Charrow","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Listernick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Ward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90381-6"},{"key":"e_1_2_1_3_1","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1992"},{"key":"e_1_2_1_4_1","first-page":"51","article-title":"Fine structure mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type 1","volume":"44","author":"O'Connell P","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.20.7207"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(80)80254-4"},{"key":"e_1_2_1_7_1","volume-title":"Cutaneous manifestation of neurofibromatosis: Cellular interaction, pigmentation and mast cells","author":"Riccardi VM","year":"1981"},{"issue":"2","key":"e_1_2_1_7_2","first-page":"129","article-title":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90252-A"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.41.217.316"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450518","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450518","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T08:22:09Z","timestamp":1698308529000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450518"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,3]]}},"alternative-id":["10.1002\/ajmg.1320450518"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450518","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,3]]}}}