Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We...

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Detalles Bibliográficos
Autores principales: Yalcintepe, Sinem, Demir, Selma, Atli, Emine Ikbal, Deveci, Murat, Atli, Engin, Gurkan, Hakan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2020
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490121/
https://www.ncbi.nlm.nih.gov/pubmed/32939518
http://dx.doi.org/10.1055/s-0040-1714092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490121/
https://www.ncbi.nlm.nih.gov/pubmed/32939518
http://dx.doi.org/10.1055/s-0040-1714092

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