| 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 |
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| Authors: | ID Planinšek Ručigaj, Tanja (Author)
ID Rijavec, Matija (Author)
ID Miljković, Jovan (Author)
ID Šelb, Julij Gyula (Author)
ID Korošec, Peter (Author) |
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| Files: |  Radiology_and_Oncology_2017_Planinsek_Rucigaj_et_al._A_novel_mutation_in_the_FOXC2_gene_a_heterozygous_insertion_of_adenosine_(c.867insA.pdf (538,46 KB)
MD5: D5B66ED38C8307AC63DF015A9EDF29F3
PID: 20.500.12556/dkum/ee50b0a9-44ba-415c-a891-b8411233bd93
 http://www.degruyter.com/view/j/raon.2017.51.issue-3/raon-2017-0026/raon-2017-0026.xml
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| Language: | English |
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| Work type: | Scientific work |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: | MF - Faculty of Medicine
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| Abstract: | 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 extremities, usually distichiasis and late onset.
Patients and methods: Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene.
Results: All 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.
Conclusions: Identification 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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| Keywords: | primary lymphedema, FOXC2 mutation, distichiasis, lower limbs lymphedema |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2017 |
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| Number of pages: | str. 363-368 |
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| Numbering: | Letn. 51, št. 3 |
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| PID: | 20.500.12556/DKUM-68842  |
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| ISSN: | 1318-2099 |
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| UDC: | 616.5 |
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| ISSN on article: | 1318-2099 |
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| COBISS.SI-ID: | 4221868 |
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| DOI: | 10.1515/raon-2017-0026 |
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| NUK URN: | URN:SI:UM:DK:0TPPYBJJ |
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| Publication date in DKUM: | 30.10.2017 |
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| Views: | 1454 |
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| Downloads: | 192 |
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| Metadata: |    |
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| Categories: | Misc.
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