{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:40:37Z","timestamp":1790419237360,"version":"4.1.0"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,12,9]],"date-time":"2008-12-09T00:00:00Z","timestamp":1228780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,12,9]],"date-time":"2008-12-09T00:00:00Z","timestamp":1228780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res"],"abstract":"<jats:p>Achondroplasia (ACH), the most common cause of chondrodysplasia in man (1 in 15,000 live births), is an autosomal dominant condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Recently, a gene for ACH has been mapped to chromosome 4p16.3. The genetic interval encompassing the disease gene contains a member of the fibroblast growth factor receptor (FGFR) family which is expressed in articular chondrocytes (FGFR,). We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR, protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families. Thus, it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR, protein account for all cases (23\/23) of achondroplasia in our series.<\/jats:p>","DOI":"10.1159\/000184768","type":"journal-article","created":{"date-parts":[[2008,12,15]],"date-time":"2008-12-15T06:03:14Z","timestamp":1229320994000},"page":"108-110","source":"Crossref","is-referenced-by-count":47,"title":["Mutations of the Fibroblast Growth Factor Receptor-3 Gene in Achondroplasia"],"prefix":"10.1159","author":[{"given":"Francis","family":"Rousseau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacky","family":"Bonaventure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Legeai-Mallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pelet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Rozet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,12,9]]},"container-title":["Hormone Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000184768","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:32:12Z","timestamp":1777627932000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000184768"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,9]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000184768","archive":["Portico"],"relation":{},"ISSN":["0301-0163","1423-0046"],"issn-type":[{"value":"0301-0163","type":"print"},{"value":"1423-0046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,9]]}}}