Abstract X‐linked hypophosphatemia (XLH), characterized by renal phosphate wasting, is
the most common cause of vitamin D‐resistant rickets. It has been postulated that some …

Familial hypophosphatemic vitamin D–resistant rickets is a hereditary disease generally
transmitted as an X-linked dominant trait and characterized by distinctive general clinical …

Context X-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and
recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common …

Background: We report monozygotic twin girls with a family history consistent with X-linked
hypophosphataemic rickets (XLH). One twin had a skeletal and biochemical phenotype …

Mutations including nonsense mutations, missense mutations, splicing-site mutations,
insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are …

Rickets in Denmark Page 1 PHD THESIS DANISH MEDICAL JOURNAL DANISH MEDICAL
JOURNAL1 This review has been accepted as a thesis together with threepreviously published …