A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia

Clin Genet. 2021 Oct;100(4):489-490. doi: 10.1111/cge.14034. Epub 2021 Jul 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Codon, Nonsense*
  • Facies
  • Genetic Association Studies
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microphthalmos / diagnosis*
  • Microphthalmos / genetics*
  • Phenotype*
  • Protein Domains / genetics*
  • Proto-Oncogene Proteins / chemistry
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / chemistry
  • Repressor Proteins / genetics*

Substances

  • BCOR protein, human
  • Codon, Nonsense
  • Proto-Oncogene Proteins
  • Repressor Proteins