[Brachydactyly type C due to a nonsense mutation in the GDF5 gene]

An Pediatr (Engl Ed). 2018 Feb;88(2):107-109. doi: 10.1016/j.anpedi.2017.03.001. Epub 2017 Apr 5.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brachydactyly / genetics*
  • Child
  • Growth Differentiation Factor 5 / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree

Substances

  • GDF5 protein, human
  • Growth Differentiation Factor 5

Supplementary concepts

  • Brachydactyly type C