Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2)

Ann Saudi Med. 2008 May-Jun;28(3):209-12. doi: 10.5144/0256-4947.2008.209.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 9*
  • Elbow / abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Lower Extremity Deformities, Congenital / diagnosis
  • Lower Extremity Deformities, Congenital / genetics
  • Pedigree
  • Syndrome
  • T-Box Domain Proteins / genetics
  • Translocation, Genetic*
  • Upper Extremity Deformities, Congenital / diagnosis
  • Upper Extremity Deformities, Congenital / genetics

Substances

  • T-Box Domain Proteins
  • T-box transcription factor 5