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

AuthorsK Devriendt, J Jaeken, G Matthijs, H Van Esch, P Debeer, M Gewillig, J P Fryns
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 65 Issue 1 Pg. 249-51 (Jul 1999) ISSN: 0002-9297 [Print] United States
PMID10364539 (Publication Type: Case Reports, Letter)
Chemical References
  • HOXA3 protein, human
  • Homeodomain Proteins
  • Trans-Activators
  • homeobox protein HOXA13
  • HoxA protein
Topics
  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7
  • Ductus Arteriosus, Patent (genetics)
  • Foot Deformities (diagnostic imaging, genetics)
  • Hand Deformities (diagnostic imaging, genetics)
  • Haplotypes
  • Homeodomain Proteins (genetics)
  • Humans
  • Karyotyping
  • Male
  • Radiography
  • Syndrome
  • Trans-Activators (genetics)
  • Urogenital Abnormalities (genetics)
  • Velopharyngeal Insufficiency (genetics)

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