Cargando…

Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

BACKGROUND: Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant clinical overla...

Descripción completa

Detalles Bibliográficos
Autores principales: Campens, Laurence, Callewaert, Bert, Muiño Mosquera, Laura, Renard, Marjolijn, Symoens, Sofie, De Paepe, Anne, Coucke, Paul, De Backer, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326194/
https://www.ncbi.nlm.nih.gov/pubmed/25644172
http://dx.doi.org/10.1186/s13023-014-0221-6