Article
Anatomical similarity between the Sost-knockout mouse and sclerosteosis in humans.
Anatomical record (Hoboken, N.J. : 2007) - 1 Sept 2020
Schwarze Uwe Y, Dobsak Toni, Gruber Reinhard, Bookstein Fred L
Abstract excerpt
Sclerosteosis, a rare autosomal recessive genetic disorder caused by a mutation of the Sost gene, manifests in the facial skeleton by gigantism, facial distortion, mandibular prognathism, cranial nerve palsy, and, in extreme cases, compression of the medulla oblongata. Mice lacking sclerostin reflect some symptoms of sclerosteosis, but this is the first report of the effect on the facial skeleton. We used...
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