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...
Topics
- Chromosomes, Human, Pair 12
- Ectromelia
- Female
- Genes, Dominant
- Genetic Heterogeneity
- Genetic Linkage
- Hand Deformities, Congenital
- Heart Block
- Heart Defects, Congenital
- Heart Septal Defects, Atrial
- Humans
- Male
- Mutation
- Pedigree
- Syndrome