Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

@article{Goodman1998DeletionsIH,
  title={Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.},
  author={Frances R. Goodman and Maria Luisa Giovannucci-Uzielli and Christine M. Hall and William Reardon and Robin Winter and Pete Scambler},
  journal={American journal of human genetics},
  year={1998},
  volume={63 4},
  pages={992-1000}
}
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-terminal polyalanine tract in HOXD13. We report a novel type of… CONTINUE READING