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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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Detalhes bibliográficos
Publicado no:Radiol Oncol
Main Authors: Planinsek Rucigaj, Tanja, Rijavec, Matija, Miljkovic, Jovan, Selb, Julij, Korosec, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: De Gruyter Open 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5612002/
https://ncbi.nlm.nih.gov/pubmed/28959174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/raon-2017-0026
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