Phosphate-regulating endopeptidase homolog, x-linked
The gene encodes a phosphate-regulating endopeptidase and its dysfunction results in sevier bone disease.
Genetests:
Related Diseases:
References:
1. |
Brame LA et al. (2004) Renal phosphate wasting disorders: clinical features and pathogenesis.
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2. |
Baroncelli GI et al. (2004) Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.
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3. |
Orphanet article
Orphanet ID 124239
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4. |
NCBI article
NCBI 5251
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5. |
OMIM.ORG article
Omim 300550
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6. |
Wikipedia article
Wikipedia EN (PHEX)
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Update: Aug. 14, 2020