Article
A novel mutation in FGFR2.
American journal of medical genetics. Part A - 1 Jan 2015
Goos Jacqueline A C, van den Ouweland Ans M W, Swagemakers Sigrid M A, Verkerk Annemieke J M H, Hoogeboom A Jeannette M, van Veelen Marie-Lise C, Mathijssen Irene M J, van der Spek Peter J
Abstract excerpt
Craniosynostosis is a congenital anomaly that can occur as an isolated condition or as part of a syndrome. Although several genes are known to cause syndromic craniosynostosis, only 24% can be attributed to known genes. Therefore, it is likely that more mutations and other genes are involved. We present the identification of a novel point mutation in fibroblast growth factor receptor 2 (FGFR2), c.812G>T,...
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