Article
A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.
The Journal of clinical endocrinology and metabolism - 1 Oct 1998
Econs M J, Friedman N E, Rowe P S, Speer M C, Francis F, Strom T M, Oudet C, Smith J A, Ninomiya J T, Lee B E, Bergen H
Abstract excerpt
Previous investigators described a kindred with an X-linked dominant form of phosphate wasting in which affected children did not have radiographic evidence of rickets, whereas older individuals were progressively disabled by severe bowing. They proposed that this kindred suffered from a distinct...
Topics
- Adolescent
- Age of Onset
- Base Sequence
- Child
- Child, Preschool
- Drug Resistance
- Female
- Humans
- Hypophosphatemia
- Infant
- Leg