| Naslov: | 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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| Avtorji: | ID Planinšek Ručigaj, Tanja (Avtor)
ID Rijavec, Matija (Avtor)
ID Miljković, Jovan (Avtor)
ID Šelb, Julij Gyula (Avtor)
ID Korošec, Peter (Avtor) |
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| Datoteke: |  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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| Jezik: | Angleški jezik |
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| Vrsta gradiva: | Znanstveno delo |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: | MF - Medicinska fakulteta
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| Opis: | 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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| Ključne besede: | primary lymphedema, FOXC2 mutation, distichiasis, lower limbs lymphedema |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2017 |
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| Št. strani: | str. 363-368 |
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| Številčenje: | 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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| UDK: | 616.5 |
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| COBISS.SI-ID: | 4221868 |
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| DOI: | 10.1515/raon-2017-0026 |
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| ISSN pri članku: | 1318-2099 |
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| NUK URN: | URN:SI:UM:DK:0TPPYBJJ |
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| Datum objave v DKUM: | 30.10.2017 |
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| Število ogledov: | 1458 |
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| Število prenosov: | 192 |
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| Metapodatki: |    |
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| Področja: | Ostalo
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