TYK This disorder results from mutations in the proximal tyrosine kinase domain of the FGFR3 gene. This gene plays an important role in embryonic development, playing a part in regulating activities such as cell division, migration and differentiation.<unk>  can result from p. Lys650Asn as well. In FGFR3, some 20 different mutations have been associated to<unk> , and it seems to have a role in skeletal dysplasia.
Hypochondroplasia
Achondroplasia
Pseudoachondroplasia
Otospondylomegaepiphyseal dysplasia
Metaphyseal dysplasia
Omphalocele
Multiple epiphyseal dysplasia
Thanatophoric dysplasia