{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T07:34:39Z","timestamp":1790494479121,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,30]],"date-time":"2016-03-30T00:00:00Z","timestamp":1459296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Bridge Grant from the University of Georgia OVPR"},{"name":"Department of Cellular Biology"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Thanatophoric dysplasia is a type of short\u2010limbed neonatal dwarfism that is usually lethal in the perinatal period. It is characterized by short limbs, a narrow, bell\u2010shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies. These malformations result from autosomal dominant mutations in the fibroblast growth factor receptor 3 (<jats:italic>FGFR3<\/jats:italic>) gene. In this report, we describe a novel <jats:italic>FGFR3<\/jats:italic> insertion mutation in a fetus with shortened limbs, curved femurs, and a narrow thorax. The diagnosis of thanatophoric dysplasia type 1 was suspected clinically, and <jats:italic>FGFR3<\/jats:italic> sequencing showed a c.742_743insTGT variant, which predicts p.R248delinsLC. In vivo studies in zebrafish demonstrated that this mutation resulted in the overexpression of zebrafish Fgfr3, leading to the over\u2010activation of downstream signaling and dorsalized embryos. To date, no insertions or deletions in <jats:italic>FGFR3<\/jats:italic> have been reported to cause thanatophoric dysplasia types 1 or 2; therefore, this represents the first report to describe such a mutation. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37609","type":"journal-article","created":{"date-parts":[[2016,3,31]],"date-time":"2016-03-31T00:26:06Z","timestamp":1459383966000},"page":"1573-1579","source":"Crossref","is-referenced-by-count":9,"title":["Identification of a novel insertion mutation in <i>FGFR3<\/i> that causes thanatophoric dysplasia type 1"],"prefix":"10.1002","volume":"170","author":[{"given":"Amanda S.","family":"Lindy","sequence":"first","affiliation":[{"name":"Department of Neurogenetics GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica J.","family":"Basehore","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South 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