Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
Abstract Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, scoliosis, abnormal pinnae, muscu...
Gorde:
| Egile Nagusiak: | , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wiley
2021-04-01
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| Saila: | Molecular Genetics & Genomic Medicine |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1002/mgg3.1638 |
| Etiketak: |
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