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Pulmonary Nontuberculous Mycobacterial Infection in Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly (CCA) is caused by mutations within fibrillin-2 (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs. We describe a novel FBN2 mutation in a w...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3732819/ https://ncbi.nlm.nih.gov/pubmed/22325249 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5588/ijtld.11.0301 |
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