We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Fibrodisplazi Ossifikans Progresiva: Klinik ve Moleküler Bulgularıyla Klasik Bir Olgu.
- Authors
ATİK, Tahir; IŞIK, Esra; ONAY, Hüseyin; TEKİN, İsmihan Merve; GÜNAY, Hüseyin; ÖZKINAY, Ferda
- Abstract
Fibrodysplasia ossificans progressiva (FOP), is a rare autosomal dominant disease characterized by new bone formation with in extraskeletal connective tissues and congenital malformations of the bigtoes. There have been described two types of FOP, classical and atypical. The heterozygous mutation (c.617G>A; p.R206H) in ACVR1 gene, located at chromosome 2q23, has been discovered as there sponsible for classical FOP. A 5-year-old girl with FOP clinically diagnosed was found to have this recurrent mutation heterozygously. This case is reported to emphasize the importance of considering this rare syndrome on cases with similar symptoms.
- Publication
Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2015, Vol 24, Issue 4, p164
- ISSN
1300-0381
- Publication type
Article
- DOI
10.5336/pediatr.2015-46663