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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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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | 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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