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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Malignant hypophosphathaemic bone disease.

A case of crippling osteoporosis with muscular weakness, hypophosphatemia, hyperparathyroidism, defective skeletal calcification and cartilage destruction is reported. The patient, a male was observed from the age of 2 1/2 until his death at the age of 33 years. This bone/cartilage disease failed to respond to phosphate supplementation, parathyroidectomy and calcitriol. We believe this may represent a hitherto undescribed entity.[1]


  1. Malignant hypophosphathaemic bone disease. Kozlowski, K., Posen, S. European journal of radiology. (2001) [Pubmed]
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