Article
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.
Human molecular genetics - 1 Sept 2002
Cundy Tim, Hegde Madhuri, Naot Dorit, Chong Belinda, King Alan, Wallace Robyn, Mulley John, Love Donald R, Seidel Joerg, Fawkner Matthew, Banovic Tatjana, Callon Karen E, Grey Andrew B, Reid Ian R, Middleton-Hardie Catherine A, Cornish Jillian
Abstract excerpt
Idiopathic hyperphosphatasia is an autosomal recessive bone disease characterized by deformities of long bones, kyphosis and acetabular protrusion, increasing in severity as affected children pass through adolescence. Biochemical and histological evidence indicate that there is extremely rapid bone turnover, with indices of both bone resorption and formation greatly increased. A genome-wide search, in a family...
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