{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T14:55:20Z","timestamp":1790434520823,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,2,11]],"date-time":"2003-02-11T00:00:00Z","timestamp":1044921600000},"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":[[2003,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this communication, we report the identification of a mosaic R248C missense mutation in the IgII\u2013III linker region of the gene encoding the fibroblast growth factor receptor\u20103 (<jats:italic>FGFR3<\/jats:italic>), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia. By means of Denaturing High Performance Liquid Chromatography (DHPLC), we determined that 25% of her lymphocytes are heterozygous for this particular missense mutation in <jats:italic>FGFR3<\/jats:italic>, and that 12.5% of her lymphocyte\u2010derived genomic DNA encodes a cysteine residue at this position. The proposita has disproportionate short stature, radial head dislocation, coxa vara, and bowing of some of the long bones, associated with an S\u2010shaped deformity of the humerus, accompanied by widespread acanthosis nigricans in the integument. These features do not match any previously described skeletal dysplasia. Further, the proposita's only pregnancy ended in the delivery of a fetus manifesting a lethal short\u2010limbed dwarfism with pulmonary hypoplasia, strongly suggestive of an undiagnosed thanatophoric dysplasia. These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in <jats:italic>FGFR3<\/jats:italic>. Thus far, all reported <jats:italic>FGFR3<\/jats:italic> R248C mutations have resulted in thanatophoric dysplasia type I (TDI). \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20012","type":"journal-article","created":{"date-parts":[[2003,6,24]],"date-time":"2003-06-24T10:15:25Z","timestamp":1056449725000},"page":"157-168","source":"Crossref","is-referenced-by-count":30,"title":["Somatic and germline mosaicism for a R248C missense mutation in <i>FGFR3<\/i>, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia"],"prefix":"10.1002","volume":"120A","author":[{"given":"Valentine J.","family":"Hyland","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen 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