Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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. 
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| 2. |
Lorenz-Depiereux B et al. (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
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| 3. |
Stamp TC et al. (1976) Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome.
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| 4. |
Baker LR et al. (1989) Autosomal recessive hypophosphataemia.
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| 5. |
None (1977) Sensorineural deafness associated with recessive hypophosphataemic rickets.
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| 6. |
OMIM.ORG article Omim 241520
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| 7. |
Orphanet article Orphanet ID 437
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