5 research outputs found
Age-Related Inflammatory Balance Shift, Nasal Barrier Function, and Cerebro-Morphological Status in Healthy and Diseased Rodents
Performance and security analysis of the generalized Kirchhoff-Law-Johnson-Noise key exchange protocol
Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary
Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era
Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this report, on the example of the diagnostic odyssey of a patient with Marfan syndrome (MFS) harboring a hitherto unreported 32-kb FBN1 deletion, we highlight the need for and the feasibility of testing for CNVs (>1 kb) in Mendelian disorders in the current next-generation sequencing (NGS) era