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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...

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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:	Research
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

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