Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

Am J Med Genet A. 2014 Jul;164A(7):1846-9. doi: 10.1002/ajmg.a.36342. Epub 2014 Apr 29.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / diagnosis*
  • Arthrogryposis / genetics*
  • Child, Preschool
  • Facies
  • Female
  • Heterozygote*
  • Humans
  • Metalloendopeptidases / genetics*
  • Mutation*
  • Phenotype*

Substances

  • ECEL1 protein, human
  • Metalloendopeptidases