Article
Hyperosteoidosis and hypermineralization in the same bone: bone tissue analyses in a boy with a homozygous BMP1 mutation.
Calcified tissue international - 1 Dec 2013
Hoyer-Kuhn Heike, Semler Oliver, Schoenau Eckhard, Roschger Paul, Klaushofer Klaus, Rauch Frank
Abstract excerpt
Recently, homozygous mutations in BMP1 were identified as a cause of bone fragility in children with high areal bone mineral density. We examined iliac bone tissue from a 12-year-old boy with a homozygous mutation that leads to a p.Gly12Arg change in the signal peptide of BMP1, an enzyme that cleaves C-propeptide off the procollagen type I molecule. Histomorphometric analyses revealed marked hyperosteoidosis,...
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