{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T20:35:53Z","timestamp":1791405353223,"version":"4.3.3"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe a 16\u2010month\u2010old male with N540K homozygous mutation in the <jats:italic>FGFR3<\/jats:italic> gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia\/hypochondroplasia compound heterozygosity. This case represents a new expression of <jats:italic>FGFR3<\/jats:italic> spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36504","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T21:51:09Z","timestamp":1396993869000},"page":"1784-1788","source":"Crossref","is-referenced-by-count":7,"title":["Homozygous <i>N540K<\/i> hypochondroplasia\u2014First report: Radiological and clinical features"],"prefix":"10.1002","volume":"164","author":[{"given":"M. Laura Garcia","family":"De Rosa","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica M\u00e9dica Hospital J.P. 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