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Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome

BACKGROUND: Marfan syndrome (MFS) is a connective tissue disease involving multiple systems, with thoracic aortic aneurysm (TAA) as the most common life-threatening manifestation. METHOD: A pedigree with TAA was investigated, and peripheral venous blood was extracted from six family members. After w...

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Detalles Bibliográficos
Autores principales: Yang, Rencong, Zhang, Wu, Lu, Hua, Liu, Jinlong, Xia, Yu, Liao, Shengjie, Li, Xiaohui, Zhang, Xiaoshen, Fan, Xiaoping, Wang, Chaojie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005307/
https://www.ncbi.nlm.nih.gov/pubmed/35440892
http://dx.doi.org/10.1155/2022/3556302

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