Autosomal recessive hypophosphatemic rickets type 1 is a hyperphosphaturia syndrome with skeletal malformations caused by mutations of the DMP1 gene.
1. |
Feng JQ et al. (2006) Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. |
2. |
Lorenz-Depiereux B et al. (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. |
3. |
Stamp TC et al. (1976) Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome. |
4. |
Baker LR et al. (1989) Autosomal recessive hypophosphataemia. |
5. |
None (1977) Sensorineural deafness associated with recessive hypophosphataemic rickets. |
6. |
OMIM.ORG article Omim 241520 |
7. |
Orphanet article Orphanet ID 437 |