Article
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
The Journal of pediatrics - 1 Apr 1998
Gripp K W, McDonald-McGinn D M, Gaudenz K, Whitaker L A, Bartlett S P, Glat P M, Cassileth L B, Mayro R, Zackai E H, Muenke M
Abstract excerpt
To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for...
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