X-linked BCOR-related syndrome in two male siblings

Clin Dysmorphol. 2021 Apr 1;30(2):104-109. doi: 10.1097/MCD.0000000000000359.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Genes, X-Linked*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Infant
  • Karyotyping
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Pedigree
  • Phenotype*
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Siblings*

Substances

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