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,...

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Main Authors:	Planinsek Rucigaj Tanja, Rijavec Matija, Miljkovic Jovan, Selb Julij, Korosec Peter
Format:	Article
Language:	English
Published:	Sciendo 2017-07-01
Series:	Radiology and Oncology
Subjects:	primary lymphedema foxc2 mutation distichiasis lower limbs lymphedema
Online Access:	https://doi.org/10.1515/raon-2017-0026

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spelling	doaj-ef8961925e1041a8965bd09126ec56c52021-09-05T14:00:10ZengSciendoRadiology and Oncology1581-32072017-07-0151336336810.1515/raon-2017-0026raon-2017-0026A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasisPlaninsek Rucigaj Tanja0Rijavec Matija1Miljkovic Jovan2Selb Julij3Korosec Peter4Dermatovenereological Clinic, University Medical Centre Ljubljana, Ljubljana, SloveniaUniversity Clinic of Respiratory and Allergic Diseases Golnik, Golnik, SloveniaFaculty of Medicine, University of Maribor, Maribor, SloveniaUniversity Clinic of Respiratory and Allergic Diseases Golnik, Golnik, SloveniaUniversity Clinic of Respiratory and Allergic Diseases Golnik, Golnik, SloveniaPrimary 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.https://doi.org/10.1515/raon-2017-0026primary lymphedemafoxc2 mutationdistichiasislower limbs lymphedema
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Planinsek Rucigaj Tanja Rijavec Matija Miljkovic Jovan Selb Julij Korosec Peter
spellingShingle	Planinsek Rucigaj Tanja Rijavec Matija Miljkovic Jovan Selb Julij Korosec Peter A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis Radiology and Oncology primary lymphedema foxc2 mutation distichiasis lower limbs lymphedema
author_facet	Planinsek Rucigaj Tanja Rijavec Matija Miljkovic Jovan Selb Julij Korosec Peter
author_sort	Planinsek Rucigaj Tanja
title	A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis
title_short	A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis
title_full	A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis
title_fullStr	A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis
title_full_unstemmed	A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis
title_sort	novel mutation in the foxc2 gene: a heterozygous insertion of adenosine (c.867insa) in a family with lymphoedema of lower limbs without distichiasis
publisher	Sciendo
series	Radiology and Oncology
issn	1581-3207
publishDate	2017-07-01
description	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.
topic	primary lymphedema foxc2 mutation distichiasis lower limbs lymphedema
url	https://doi.org/10.1515/raon-2017-0026
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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

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