FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large-joint contractures and thoracolumbar scoliosis....
| Үндсэн зохиолчид: | , , , , , , |
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| Формат: | Өгүүллэг |
| Хэл сонгох: | English |
| Хэвлэсэн: |
Elsevier
2025-03-01
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| Цуврал: | Molecular Genetics and Metabolism Reports |
| Нөхцлүүд: | |
| Онлайн хандалт: | http://www.sciencedirect.com/science/article/pii/S2214426925000084 |