A novel COL3A1c.2644G > T; p.(Gly882Cys) variant in a Turkish family with vascular ehlers-danlos syndrome
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Dosyalar
Tarih
2020
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Karger
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 with EDS type IV representing approximately 5-10% of the cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. vEDS diagnosis is a challenging process. Patients usually have different phenotypic features and are unaware of the diagnosis at the time of initial vascular complications. The authors report the case of a 39-year-old male patient with EDS type IV, who developed internal carotid artery dissection and was diagnosed with clinical findings, imaging modalities, and a novel pathogenicCOL3A1variant.
Açıklama
Hançer, Veysel Sabri (isu author)
Anahtar Kelimeler
Carotid Artery, Iliac Artery, Pathologic Variation, Pseudoaneurysm, Spontaneous Dissection, Vascular Ehlers-Danlos Syndrome
Kaynak
Molecular Syndromology
WoS Q Değeri
Q4
Scopus Q Değeri
Q4
Cilt
11
Sayı
2
Künye
Aydiner, O., & Hancer, V. S. (2020). A NovelCOL3A1c.2644G > T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome. MOLECULAR SYNDROMOLOGY, 11(2), 110–114. https://doi.org/10.1159/000506585
