Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

Chin Med J (Engl). 2017 Jan 5;130(1):104-107. doi: 10.4103/0366-6999.196568.
No abstract available

MeSH terms

  • Adult
  • Asian People
  • Collagen Type II / genetics
  • Exome / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Sequence Analysis, DNA

Substances

  • Collagen Type II