Article
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
American journal of human genetics - 1 Oct 1998
Goodman F, Giovannucci-Uzielli M L, Hall C, Reardon W, Winter R, Scambler P
Abstract excerpt
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the syndactylous web. The condition recently has been found to result from different-sized expansions of an amino-termina...
Topics
- Chromosome Segregation
- Female
- Fingers
- Heterozygote
- Homeodomain Proteins
- Humans
- Male
- Metatarsal Bones
- Molecular Sequence Data
- Mutation
- Pedigree
- Sequence Deletion
- Syndactyly
- Toes
- Transcription Factors