{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T23:34:45Z","timestamp":1768001685419,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4071,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>One hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study. In aiming to ascertain all the affected families in Australia, we have examined the largest series to date. Relative frequencies of associated complications are presented and compared with those of the recent English survey by Evans et al. [J Med Genet 30:460\u2013464, 1993]. The frequencies of most manifestations are similar. However, one major difference is that the multiple basal cell carcinomas are manifest from an earlier age in the Australian population, which probably reflects greater exposure to ultraviolet radiation. Of the 64 families ascertained, 37 represented simplex cases, and, accordingly, the apparent new mutation rate is surprisingly high (14\u201381%) given the lack of impact of NBCCS on reproductive capabilities. There is some evidence to suggest that this may be attributable to anticipation. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500312","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:06:51Z","timestamp":1118509611000},"page":"282-290","source":"Crossref","is-referenced-by-count":272,"title":["Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals"],"prefix":"10.1002","volume":"50","author":[{"given":"Susan","family":"Shanley","sequence":"first","affiliation":[]},{"given":"John","family":"Ratcliffe","sequence":"additional","affiliation":[]},{"given":"Athel","family":"Hockey","sequence":"additional","affiliation":[]},{"given":"Eric","family":"Haan","sequence":"additional","affiliation":[]},{"given":"Christine","family":"Oley","sequence":"additional","affiliation":[]},{"given":"David","family":"Ravine","sequence":"additional","affiliation":[]},{"given":"Nicole","family":"Martin","sequence":"additional","affiliation":[]},{"given":"Carol","family":"Wicking","sequence":"additional","affiliation":[]},{"given":"Georgia","family":"Chenevix\u2010Trench","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"760","article-title":"Further localization of the gene for nevoid basal cell carcinoma syndrome in 15 Australasian families: Linkage and loss of heterozygosity","volume":"53","author":"Chenevix\u2010Trench G","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1991.435"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.6.460"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90868-4"},{"key":"e_1_2_1_6_1","first-page":"7","volume-title":"Normal values for selected physical parameters: An aid to syndrome delineation","author":"Feingold M","year":"1974"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90122-S"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196005052621803"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198703000-00002"},{"key":"e_1_2_1_10_1","first-page":"857","article-title":"Genomic imprinting: Review and relevance to human diseases","volume":"46","author":"Hall JG","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"162","article-title":"Basal cell naevus: Its relationships to multiple cutaneous cancers and associated anomalies of development","volume":"28","author":"Howell JB","year":"1959","journal-title":"Arch Dermatol Syph (Berlin)"},{"key":"e_1_2_1_12_1","first-page":"1","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on huntington's disease chromosomes","volume":"72","author":"The Huntington's Disease Collaborative Research Group","year":"1993","journal-title":"Cell"},{"key":"e_1_2_1_13_1","first-page":"1162","article-title":"Zur Lehre von den Hautgeschwulsten","volume":"28","author":"Jarisch W","year":"1894","journal-title":"Arch Dermatol Syph (Berlin)"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430509"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1289\/ehp.814093"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90903-G"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90302-S"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19800915)46:6<1456::AID-CNCR2820460627>3.0.CO;2-L"},{"key":"e_1_2_1_20_1","first-page":"477","article-title":"Multiple benign cystic epitheliomas","volume":"12","author":"White JC","year":"1894","journal-title":"J Cutan Genitourin Dis"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500312","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T23:35:52Z","timestamp":1698104152000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,4,15]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,4,15]]}},"alternative-id":["10.1002\/ajmg.1320500312"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500312","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,4,15]]}}}