IFT172 as the 19th gene causative of oral-facial-digital syndrome

Am J Med Genet A. 2019 Dec;179(12):2510-2513. doi: 10.1002/ajmg.a.61373. Epub 2019 Oct 6.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Alleles
  • Amino Acid Substitution
  • Biomarkers
  • Child, Preschool
  • Cytoskeletal Proteins / genetics*
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Mutation*
  • Orofaciodigital Syndromes / diagnosis*
  • Orofaciodigital Syndromes / genetics*
  • Phenotype*
  • Radiography

Substances

  • Adaptor Proteins, Signal Transducing
  • Biomarkers
  • Cytoskeletal Proteins
  • IFT172 protein, human