Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

Am J Med Genet A. 2017 Dec;173(12):3238-3240. doi: 10.1002/ajmg.a.38396. Epub 2017 Oct 19.
No abstract available

Publication types

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

MeSH terms

  • Alleles*
  • Carrier Proteins / genetics*
  • Cataract / diagnosis*
  • Cataract / genetics*
  • Genetic Association Studies
  • Genotype
  • Guanine Nucleotide Exchange Factors / genetics*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Loss of Function Mutation
  • Male
  • Middle Aged
  • Phenotype
  • Syndrome

Substances

  • Carrier Proteins
  • Guanine Nucleotide Exchange Factors
  • RIN2 protein, human