GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation

Am J Med Genet. 2000 Nov 13;95(2):185-6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Family Health
  • Genes, Recessive
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Monosomy
  • Phenotype
  • Syndrome
  • Translocation, Genetic*
  • Trisomy