Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation

Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. Am J Med Genet A. 2008 Mar 1;146A(5):658-60.