PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.
Jessica María Forero-DelgadilloDaniela ClevesVanessa OchoaHernando Londoño-CorreaJaime Manuel RestrepoJosé Antonio Nastasi-CataneseHarry PachajoaPublished in: The application of clinical genetics (2020)
XLHR is caused by mutations in the PHEX gene; to date, more than 460 mutations have been associated with the disease. Clinically, it is characterized by bowing of the lower extremities, decreased growth, musculoskeletal complaints, dental abscesses, and other clinical signs and symptoms of rickets.