Article
Novel SOST gene mutation in a sclerosteosis patient and her parents.
Bone - 1 Feb 2013
Bhadada Sanjay Kumar, Rastogi Ashu, Steenackers Ellen, Boudin Eveline, Arya Ashutosh, Dhiman Vandana, Bhansali Anil, Van Hul Wim
Abstract excerpt
INTRODUCTION: Sclerosteosis (OMIM 269500) is a rare autosomal recessive condition characterized by increased bone density associated with syndactyly. It is linked to a genetic defect in the SOST gene coding for sclerostin. So far, six different loss-of-function mutations in SOST have been reported in patients with sclerosteosis. Our objective was to sequence and identify mutation in the SOST and LRP5 genes which...
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