Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli

Am J Hum Genet. 1999 Jul;65(1):249-51. doi: 10.1086/302452.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7
  • Ductus Arteriosus, Patent / genetics*
  • Foot Deformities / diagnostic imaging
  • Foot Deformities / genetics*
  • Hand Deformities / diagnostic imaging
  • Hand Deformities / genetics*
  • Haplotypes*
  • Homeodomain Proteins / genetics
  • Humans
  • Karyotyping
  • Male
  • Radiography
  • Syndrome
  • Trans-Activators / genetics*
  • Urogenital Abnormalities / genetics*
  • Velopharyngeal Insufficiency / genetics*

Substances

  • HOXA3 protein, human
  • Homeodomain Proteins
  • Trans-Activators
  • homeobox protein HOXA13
  • HoxA protein