Ontology highlight
ABSTRACT:
SUBMITTER: Planinsek Rucigaj T
PROVIDER: S-EPMC5612002 | biostudies-other | 2017 Sep
REPOSITORIES: biostudies-other
Planinsek Rucigaj Tanja T Rijavec Matija M Miljkovic Jovan J Selb Julij J Korosec Peter P
Radiology and oncology 20170706 3
<h4>Background</h4>Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset.<h4>Patients and methods</h4>Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for ...[more]