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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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Bibliografiske detaljer
Udgivet i:Radiol Oncol
Main Authors: Planinsek Rucigaj, Tanja, Rijavec, Matija, Miljkovic, Jovan, Selb, Julij, Korosec, Peter
Format: Artigo
Sprog:Inglês
Udgivet: De Gruyter Open 2017
Fag:
Online adgang: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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