• Biology, Medicine
  • Published in
    American journal of human…
    2003
  • DOI:10.1086/375614

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

@article{Irrthum2003MutationsIT,
  title={Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.},
  author={Alexandre Irrthum and Koenraad Devriendt and David Chitayat and Gert Matthijs and Conrad P. Glade and Peter M. Steijlen and Jean-Pierre Fryns and Maurice A M van Steensel and Miikka Vikkula},
  journal={American journal of human genetics},
  year={2003},
  volume={72 6},
  pages={
          1470-8
        }
}
Hereditary lymphedema is a developmental disorder characterized by chronic swelling of the extremities due to dysfunction of the lymphatic vessels. Two responsible genes have been identified: the vascular endothelial growth factor receptor 3 (VEGFR3) gene, implicated in congenital lymphedema, or Milroy disease, and the forkhead-related transcription factor gene FOXC2, causing lymphedema-distichiasis. We describe three families with an unusual association of hypotrichosis, lymphedema, and… CONTINUE READING

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A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

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