Table 2.

Mutations in FGFR2 identified in diverse human syndrome

Human skeletal Disease	Mutation	Ref.
Apert syndrome (AS)	M186T, P252S/W/F/L, P253L/R, S267P	103-105
Beare-Stevenson syndrome (BS)	Y375C, S372C	106
Crouzon syndrome (CS)	A315T/S, A344G/P, C278F, F276V, G338R, K526E, N549D/K/H, Q289P, S267P, S347C, S354C, Y105C, Y281C, Y340C/H	9, 104, 107-109
Pfeiffer syndrome (PS)	A172F, A314D, C278F, C342F/R/S, K641R, N549D/K, S267P, T341P, W290C, Y340C/H	9, 104, 110, 111