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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Bibliografske podrobnosti
izdano v:J Med Case Rep
Main Authors: Eltahir, Safa, Ahmad, Khalid S., Al-Balawi, Mohammed M., Bukhamsien, Hussien, Al-Mobaireek, Khalid, Alotaibi, Wadha, Al-Shamrani, Abdullah
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Case Report
Online dostop: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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