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...

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Detalhes bibliográficos
Publicado no:J Thorac Dis
Main Authors: Benke, Kálmán, Ágg, Bence, Meienberg, Janine, Kopps, Anna M., Fattorini, Nathalie, Stengl, Roland, Daradics, Noémi, Pólos, Miklós, Bors, András, Radovits, Tamás, Merkely, Béla, De Backer, Julie, Szabolcs, Zoltán, Mátyás, Gábor
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2018
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5949468/
https://ncbi.nlm.nih.gov/pubmed/29850152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/jtd.2018.04.40
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