hereditary lymphedema
Hereditary lymphedema is a developmental disorder characterized by chronic swelling of the extremities due to dysfunction of the lymphatic vessels.
Etiology
mutations in the VEGFR3 gene coding for the vascular endothelial growth factor receptor 3 in congenital lymphedema or Milroy's disease
mutations in the FOXC2 gene coding for the forkhead-related transcription factor causing lymphedema-distichiasis.
mutations in the SOX18 gene (20q13) coding for Sox18 transcription factor in hypotrichosis-lymphedema-telangiectasia (#12740761#)
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