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

doi:10.1038/ejhg.2012.206

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Article

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

European journal of human genetics : EJHG - 1 May 2013

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

Abstract excerpt

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), one of several identified TAAD genes, were shown to simultaneously cause TAAD and patent ductus arteriosus (PDA). We...

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Identifiers

PMID: 22968129
DOI: 10.1038/ejhg.2012.206
PMCID: PMC3641382

Genes

MYH11

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Source receipt: pubmed, retrieved 7 Sept 2026.

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