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Human lymphoedema distichiasis syndrome (LDS) results from germline mutations in transcription factor FOXC2. In a mouse model, lack of lymphatic and venous valves is observed plus abnormal smooth muscle cell recruitment to initial lymphatics. We investigated the mechanism of lymphoedema in humans with FOXC2 mutations, specifically the effect of gravitational forces on dermal lymphatic function.

Mutations in <i>FOXC2</i> in Humans (Lymphoedema Distichiasis Syndrome) Cause Lymphatic Dysfunction on Dependency