Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome

Clin Genet. 2023 Aug;104(2):269-271. doi: 10.1111/cge.14326. Epub 2023 Mar 18.
No abstract available

Publication types

  • Letter

MeSH terms

  • Clubfoot*
  • Heart Defects, Congenital*
  • Humans
  • Mutation, Missense / genetics
  • Pierre Robin Syndrome*
  • RNA-Binding Proteins / genetics

Substances

  • RBM10 protein, human
  • RNA-Binding Proteins

Supplementary concepts

  • TARP syndrome