The evaluation of FGFR3 mutational status became relevant for human diseases when specific point mutations were discovered in various autosomal dominant human skeletal diseases, including achondroplasia, hypochondroplasia, thanatophoric dysplasia I and II, and severe achondroplasia with developmental delay and acanthosis nigrans (SADDAN) (reviewed in [191]). The gene discussed is FGFR3; the disease is achondroplasia.