Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

Am J Med Genet A. 2018 Dec;176(12):2934-2935. doi: 10.1002/ajmg.a.40631. Epub 2018 Oct 4.
No abstract available

Publication types

  • Letter

MeSH terms

  • Child
  • Comparative Genomic Hybridization
  • Female
  • GTP-Binding Proteins / genetics*
  • Genetic Testing
  • Genetic Variation*
  • Humans
  • Joint Instability / diagnosis*
  • Joint Instability / genetics*
  • Male
  • Mutation
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Radiography

Substances

  • EXOC6B protein, human
  • GTP-Binding Proteins