Clinical and molecular delineation of spondylocostal dysostosis type 3

Clin Genet. 2021 Jun;99(6):851-852. doi: 10.1111/cge.13952. Epub 2021 Mar 16.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Hernia, Diaphragmatic / genetics*
  • Hernia, Diaphragmatic / pathology
  • Humans
  • Mutation, Missense / genetics*
  • Spine / pathology

Supplementary concepts

  • Jarcho-Levin syndrome