Article
Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.
Bone - 1 Oct 2014
Palomo Telma, Al-Jallad Hadil, Moffatt Pierre, Glorieux Francis H, Lentle Brian, Roschger Paul, Klaushofer Klaus, Rauch Frank
Abstract excerpt
Recent reports have shown that homozygous or compound heterozygous mutations in WNT1 can give rise to severe bone fragility resembling osteogenesis imperfecta, whereas heterozygous WNT1 mutations have been found in adults with dominant early-onset osteoporosis. Here we assessed the effects of WNT1 mutations in four children with recessive severe bone fragility and in heterozygous family members. In vitro studies...
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