Article
A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.
Journal of neurosurgery - 1 Aug 2002
Fujisawa Hironori, Hasegawa Mitsuhiro, Kida Shinya, Yamashita Junkoh
Abstract excerpt
OBJECT: It has been reported that due to premature synostosis of the lambdoid suture in the first 24 months of life, more than 70% of patients with Crouzon syndrome concurrently suffer from chronic tonsillar herniation (Chiari Type I malformation) and some (20%) associated syringomyelia. The goal of the present study was to examine mutations in the fibroblast growth factor receptor (FGFR) genes in Crouzon...
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