Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

Thoracic aortic aneurysms and dissections (TAAD) is a serious condition with high morbidity and mortality. It is estimated that 20% of non-syndromic TAAD cases are inherited in an autosomal-dominant pattern with variable expression and reduced penetrance. Mutations in myosin heavy chain 11 (MYH11),...

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Main Authors: Harakalova, Magdalena, van der Smagt, Jasper, de Kovel, Carolien G F, van't Slot, Ruben, Poot, Martin, Nijman, Isaac J, Medic, Jelena, Joziasse, Irene, Deckers, Jaap, Roos-Hesselink, Jolien W, Wessels, Marja W, Baars, Hubert F, Weiss, Marjan M, Pals, Gerard, Golmard, Lisa, Jeunemaitre, Xavier, Lindhout, Dick, Cuppen, Edwin, Baas, Annette F
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3641382/
https://ncbi.nlm.nih.gov/pubmed/22968129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.206
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