Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene

@article{Moalem2015Hypotrichosislymphedematelangiectas,
  title={Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene},
  author={Sharon Moalem and Pascal Brouillard and Dirk R J Kuypers and Eric Legius and E. Harvey and Graham Taylor and Mathias Francois and Miikka Vikkula and David Chitayat},
  journal={Clinical Genetics},
  year={2015},
  volume={87}
}
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C > A transversion, resulting in a pre‐mature truncation of the protein, lacking the… 
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