A Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Planinsek Rucigaj, Tanja, Rijavec, Matija, Miljkovic, Jovan, Selb, Julij, Korosec, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter Open 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612002/
https://www.ncbi.nlm.nih.gov/pubmed/28959174
http://dx.doi.org/10.1515/raon-2017-0026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612002/
https://www.ncbi.nlm.nih.gov/pubmed/28959174
http://dx.doi.org/10.1515/raon-2017-0026

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