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Recent studies mapped the achondroplasia gene on chromosome region 4p 16.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3). In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied. In contrast, the G380R mutation was not found in any of the 8 hypochondroplasia chromosomes studied. Furthermore, linkage studies in a 3\u2010generation family with hypochondroplasia show discordant segregation with markers in the 4p 16.3 region suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550132","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:19Z","timestamp":1118512399000},"page":"127-133","source":"Crossref","is-referenced-by-count":35,"title":["A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia"],"prefix":"10.1002","volume":"55","author":[{"given":"Ivaylo","family":"Stoilov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael 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