Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

Abstract excerpt

Primary lymphoedema is oedema that occurs as a consequence of a failure of lymph drainage and arises from an intrinsic abnormality of the lymphatic system.1 Familial lymphoedema usually segregates as an autosomal dominant trait with reported variable expression and reduced penetrance.2,3 Primary lymphoedema can be classified according to age of onset, at birth as primary congenital lymphoedema (PCL) or Milroy...

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