Article
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
Human mutation - 1 Aug 2014
Makrythanasis Periklis, Temtamy Samia, Aglan Mona S, Otaify Ghada A, Hamamy Hanan, Antonarakis Stylianos E
Abstract excerpt
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis. We report the phenotype and underlying molecular abnormality in two brothers, born to first cousin parents. The clinical picture is characterized by tall stature and severe skeletal abnormalities leading to inability to walk, with...
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