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Lung disease associated with filamin A gene mutation: a case report
BACKGROUND: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be...
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| Publicado no: | J Med Case Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4836084/ https://ncbi.nlm.nih.gov/pubmed/27091362 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-0871-1 |
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