Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

@article{Sparrow2008MutationOH,
  title={Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.},
  author={Duncan Burnaby Sparrow and Encarna Guill{\'e}n-Navarro and Diane Fatkin and Sally L. Dunwoodie},
  journal={Human molecular genetics},
  year={2008},
  volume={17 23},
  pages={
          3761-6
        }
}
Spondylocostal dysostosis (SCD) is an inherited disorder that is characterized by the presence of extensive hemivertebrae, truncal shortening and abnormally aligned ribs. It arises during embryonic development by a disruption of formation of somites (the precursor tissue of the vertebrae, ribs and associated tendons and muscles). Previously, three genes causing a subset of autosomal recessive forms of this disease have been identified: DLL3 (SCDO1: MIM 277300), MESP2 (SCDO2: MIM 608681) and… CONTINUE READING

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