Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

@article{Ikegawa1998MutationOT,
  title={Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.},
  author={Shiro Ikegawa and Gen Nishimura and Toshiro Nagai and Tomonobu Hasegawa and Hirofumi Ohashi and Yusuke Nakamura},
  journal={American journal of human genetics},
  year={1998},
  volume={63 6},
  pages={1659-62}
}
Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A1) is considered an excellent candidate, for two reasons… CONTINUE READING