Description
Achondroplasia is a genetic disease in which the process of bone growth is impaired. It manifests as dwarfism (height less than 130 cm), shortening of the proximal parts of the limbs, deformity of the upper and lower limbs, spine, and skull bones. Intelligence is usually preserved. The cause of achondroplasia is pathogenic variants in the fibroblast growth factor receptor type 3 (FGFR3) gene, most often in exon 10 (c.1138G>A and c.1138G>C). Pathogenic variants in the FGFR3 gene lead to impaired enchondral ossification and the development of the symptoms described above.
Period of execution
Within 11 days. The specified time does not include the day of biomaterial collection
Biomaterial type