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Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

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 Mil...

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Hlavní autoři: Irrthum, Alexandre, Devriendt, Koenraad, Chitayat, David, Matthijs, Gert, Glade, Conrad, Steijlen, Peter M., Fryns, Jean-Pierre, Van Steensel, Maurice A. M., Vikkula, Miikka
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2003
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180307/
https://ncbi.nlm.nih.gov/pubmed/12740761
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