Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

Am J Med Genet A. 2016 Jan;170A(1):263-5. doi: 10.1002/ajmg.a.37374. Epub 2015 Sep 11.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Collagen Type II / genetics*
  • Genetic Counseling / methods*
  • Humans
  • Male
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / genetics
  • Polymorphism, Single Nucleotide / genetics

Substances

  • COL2A1 protein, human
  • Collagen Type II

Supplementary concepts

  • Spondyloepiphyseal dysplasia, congenita