A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis
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,...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-07-01
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| Series: | Radiology and Oncology |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/raon-2017-0026 |