Lymphedema: Clinical Picture, Diagnosis and Management

Ručigaj, Tanja Planinšek; Žunter, Vesna Tlaker

doi:10.5772/24515

Radioisotopes - Applications in Bio-Medical Science 2011

DOI: 10.5772/24515

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Lymphedema: Clinical Picture, Diagnosis and Management

Tanja Planinšek Ručigaj¹,

Vesna Tlaker Žunter²

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2017

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Cited by 1 publication

References 25 publications

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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

Ručigaj

Rijavec

Miljković

et al. 2017

Radiology and Oncology

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BackgroundPrimary 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.Patients and methodsSubjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene.ResultsAll affected family members with lymphoedema of lower limbs without distichiasis, and still asymptomatic six years old girl from the same family, carried the same previously unreported insertion of adenosine (c.867insA) in FOXC2.ConclusionsIdentification of a novel mutation in the FOXC2 gene in affected family members of three generations with lymphoedema of lower limbs without distichiasis, highlights the high phenotypic variability caused by FOXC2 mutations.

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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

Ručigaj

Rijavec

Miljković

et al. 2017

Radiology and Oncology

View full text Add to dashboard Cite

show abstract

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Lymphedema: Clinical Picture, Diagnosis and Management

Cited by 1 publication

References 25 publications

A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis

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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