Article
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
American journal of human genetics - 1 Feb 1999
Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman M L
Abstract excerpt
Autosomal dominant brachydactyly type B (BDB) is characterized by nail aplasia with rudimentary or absent distal and middle phalanges. We describe two unrelated families with BDB. One family is English; the other family is Canadian but of English ancestry. We assigned the BDB locus in the Canadia...
Topics
- Activin Receptors, Type I
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Female
- Fingers
- Foot Deformities, Congenital
- Genes, Dominant
- Hand Deformities, Congenital
- Haplotypes
- Humans
- Male
- Mutation
- Pedigree
- Protein Serine-Threonine Kinases