Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency of SMAD3 is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novel SMAD3 mutation in a patient with hypoplastic left heart syndrome (HLHS) who developed progressive ao...

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Detalles Bibliográficos
Autores principales: Fitzgerald, Kristi K., Bhat, Abdul Majeed, Conard, Katrina, Hyland, James, Pizarro, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970455/
https://www.ncbi.nlm.nih.gov/pubmed/24711937
http://dx.doi.org/10.1155/2014/591516

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