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A clinical scoring system for congenital contractural arachnodactyly.
- Source :
- Genetics in medicine
- Publication Year :
- 2019
-
Abstract
- Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested. We designed a clinical scoring system and diagnostic criteria to support the diagnostic process and guide molecular genetic testing.<br />SCOPUS: ar.j<br />info:eu-repo/semantics/published
Details
- Database :
- OAIster
- Journal :
- Genetics in medicine
- Notes :
- 1 full-text file(s): application/pdf, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1192452135
- Document Type :
- Electronic Resource