However, the functional analysis of the gene has not been carried out at the time of publication, and the currently available data can only indirectly explain role of a loss-of-function of FGFR2 in FGFs/FGFRs-dependent signaling and how it could result in a bone mineralization disorder with highly variable clinical features among several affected individuals within one family. Here, FGFR2 is linked to abnormal mineralization disorder.