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....
| প্রধান লেখক: | , , , , , , |
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| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
Elsevier
2025-03-01
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| মালা: | Molecular Genetics and Metabolism Reports |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | http://www.sciencedirect.com/science/article/pii/S2214426925000084 |