Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome

The vascular subtype of Ehlers Danlos Syndrome (vEDS) is a rare connective tissue disorder characterized by spontaneous arterial, bowel or organ rupture. The diagnosis of vEDS is established in a proband by identification of a heterozygous pathogenic variant in the alpha-1 gene of type III collagen...

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Detalles Bibliográficos
Autores principales: Manhas, Janvie, Lohani, Lov Raj, Seethy, Ashikh, Kumar, Uma, Gamanagatti, Shivanand, Sen, Sudip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9595653/
https://www.ncbi.nlm.nih.gov/pubmed/36304539
http://dx.doi.org/10.3389/fcvm.2022.939013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9595653/
https://www.ncbi.nlm.nih.gov/pubmed/36304539
http://dx.doi.org/10.3389/fcvm.2022.939013

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