Article
Genetic heterogeneity of heart-hand syndromes.
Circulation - 1 Mar 1995
Basson C T, Solomon S D, Weissman B, MacRae C A, Poznanski A K, Prieto F, Ruiz de la Fuente S, Pease W E, Levin S E, Holmes L B
Abstract excerpt
BACKGROUND: Heart-hand syndromes compose a class of combined congenital cardiac and limb deformities. The proto-typical heart-hand disorder is Holt-Oram syndrome, which is characterized by cardiac septation defects and radial ray limb deformity. We have recently mapped the Holt-Oram syndrome gene defect to the long arm of human chromosome 12 in two families. The role of this disease locus in the pathogenesis of...
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