Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities

Clin Genet. 2006 May;69(5):441-3. doi: 10.1111/j.1399-0004.2006.00601.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Growth Hormone / deficiency*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Kruppel-Like Transcription Factors / genetics*
  • Male
  • Nuclear Proteins / genetics*
  • Polydactyly / diagnosis
  • Polydactyly / genetics*
  • Protein C / genetics*
  • Sequence Deletion
  • Urogenital Abnormalities / diagnosis
  • Urogenital Abnormalities / genetics*
  • Venous Thrombosis / diagnosis
  • Venous Thrombosis / genetics*
  • Zinc Finger Protein Gli2

Substances

  • GLI2 protein, human
  • Kruppel-Like Transcription Factors
  • Nuclear Proteins
  • Protein C
  • Zinc Finger Protein Gli2
  • Growth Hormone