Article
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)
The New England journal of medicine - 31 Mar 1994
Basson C T, Cowley G S, Solomon S D, Weissman B, Poznanski A K, Traill T A, Seidman J G, Seidman C E
Abstract excerpt
BACKGROUND: The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects. The cause of these disparate clinical features is unknown. To identify the chromosomal location of the Holt-Oram syndrome gene, we performed clinical and genetic studies. METHODS: Two large families with the Holt-Oram syndrome were evaluated...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child
- Child, Preschool
- Chromosomes, Human, Pair 12
- DNA Primers
- Female
- Genetic Linkage
- Genotype
- Hand Deformities, Congenital