Article
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
American journal of human genetics - 1 Feb 1998
Van Hul W, Balemans W, Van Hul E, Dikkers F G, Obee H, Stokroos R J, Hildering P, Vanhoenacker F, Van Camp G, Willems P J
Abstract excerpt
Van Buchem disease (hyperostosis corticalis generalisata; OMIM 239100 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?239100]) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles, ribs, and diaphyseal cortices of the long bones. The most striking clinical features are the enlargement of the jaw and the thickness of the skull, which may lead to facial nerve...
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