{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T10:34:44Z","timestamp":1778668484140,"version":"3.51.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene alterations in the &lt;i&gt;ANTXR1&lt;\/i&gt; gene have been reported to be causative of this disorder, and an autosomal recessive pattern has been observed. This gene encodes a matrix-interacting protein that works as an adhesion molecule. In this report, we describe 2 homozygous siblings diagnosed with GAPO syndrome carrying a new missense mutation. This mutation produces the substitution of a glutamine in position 137 for a leucine (c.410A&gt;T, p.Q137L).<\/jats:p>","DOI":"10.1159\/000446619","type":"journal-article","created":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T01:40:28Z","timestamp":1464831628000},"page":"160-163","source":"Crossref","is-referenced-by-count":13,"title":["New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report"],"prefix":"10.1159","volume":"7","author":[{"given":"Julio C.","family":"Salas-Alan\u00eds","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire A.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar R.","family":"Fajardo-Ram\u00edrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carola","family":"Duran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda G.","family":"Moreno-Trevi\u00f1o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David P.","family":"Kelsell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,6,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36678"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/n35101999"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190203"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2004.12.025"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M210321200"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-03-2408"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.023"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190202"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370210"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446619","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446619","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/446619","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:09:29Z","timestamp":1745431769000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000446619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2016,7,25]]}},"URL":"https:\/\/doi.org\/10.1159\/000446619","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}