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- Title
Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu.
- Authors
Korkut, Didem Güneş; Kör, Deniz; Bulut, Fatma Derya; Kılavuz, Sebile; Ceylaner, Serdar; Ballı, Hüseyin Tuğsan; Önenli Mungan, Halise Neslihan
- Abstract
Osteogenesis Imperfecta (OI) is a rare hereditary disease of bone metabolism which has many phenotypes. It occurs as a result of mutations in genes responsible for making Type I collagen. In this disease with both autosomal dominant and recessive inheritance, more than 80% of cases are associated with mutations in COL1A1-A2 genes. In the rest, mutations in the IFITM5 gene are responsible for 5-10% of the cases. The most common mutation seen in IFITM5 gene “c. - 14C> T ” is responsible for autosomal dominant OI Type V. There are many clinical variations of OI type V. The fact that the poor phenotypic features in some cases make the diagnosis more difficult. This case report was presented because of both being the first OI Type V case diagnosed in our hospital and differences of its clinical features.
- Publication
Mersin Üniversitesi sağlık Bilimleri Dergisi, 2021, Vol 14, Issue 2, p354
- ISSN
1308-0822
- Publication type
Article
- DOI
10.26559/mersinsbd.808861