{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:15:01Z","timestamp":1761822901091},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T00:00:00Z","timestamp":1137024000000},"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":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (<jats:italic>FGFR3<\/jats:italic>) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele\u2010specific PCR demonstrated that these mutations were on the same allele (<jats:italic>cis<\/jats:italic>). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two <jats:italic>FGFR3<\/jats:italic> mutations on the same allele. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31084","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T21:50:05Z","timestamp":1137102605000},"page":"284-290","source":"Crossref","is-referenced-by-count":19,"title":["Severe complications in a child with achondroplasia and two <i>FGFR3<\/i> mutations on the same 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