{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T08:15:13Z","timestamp":1761293713433,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the &lt;i&gt;PTCH1&lt;\/i&gt; gene in chromosome 9q22, in the &lt;i&gt;PTCH2&lt;\/i&gt; gene in 1p34, or the &lt;i&gt;SUFU&lt;\/i&gt; gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst. These clinical findings were compatible with the diagnosis of NBCCS, and a novel mutation, c.1249delC; p.Gln417Lysfs*15, was found in &lt;i&gt;PTCH1 &lt;\/i&gt;causing a premature stop codon.<\/jats:p>","DOI":"10.1159\/000487747","type":"journal-article","created":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T22:01:18Z","timestamp":1521151278000},"page":"57-61","source":"Crossref","is-referenced-by-count":6,"title":["A Novel &lt;b&gt;&lt;i&gt;PTCH1 &lt;\/i&gt;&lt;\/b&gt;Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome"],"prefix":"10.1159","volume":"154","author":[{"given":"Ceren D.","family":"Durmaz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gareth","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam J.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pelin","family":"Ertop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beng\u00fc N.","family":"Akay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timur","family":"Tuncal\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,3,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.11537"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.4103\/0974-9233.167815"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20495"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32909"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104669"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055343"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/217378"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1067\/S0190-9622(03)00415-8"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.01340"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.58.2569"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2006.08.052"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/487747","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/487747","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:46:21Z","timestamp":1745426781000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000487747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,5,7]]},"published-print":{"date-parts":[[2018,5,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000487747","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2018]]}}}