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

AuthorsLourdes Travieso-Suárez, Arrate Pereda, Jesús Pozo-Román, Guiomar Pérez de Nanclares, Jesús Argente
JournalAnales de pediatria (An Pediatr (Engl Ed)) Vol. 88 Issue 2 Pg. 107-109 (Feb 2018) ISSN: 2341-2879 [Electronic] Spain
Vernacular TitleBraquidactilia tipo C debida a mutación de parada en el gen GDF5.
PMID28391997 (Publication Type: Case Reports, Letter)
Chemical References
  • GDF5 protein, human
  • Growth Differentiation Factor 5
Topics
  • Brachydactyly (genetics)
  • Child
  • Growth Differentiation Factor 5 (genetics)
  • Humans
  • Male
  • Mutation
  • Pedigree

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