Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome

BACKGROUND: Vascular Ehlers‐Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has limitations for diagnosis since exon deletion/duplication and splicing alterations are not uncommon in COL3A1. We report 2 patie...

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Detalles Bibliográficos
Autores principales: Heo, Won Young, Jang, Shin Yi, Park, Taek Kyu, Ki, Chang‐Seok, Kim, Jong‐Won, Kim, Duk‐Kyung, Jang, Ja‐Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496071/
https://www.ncbi.nlm.nih.gov/pubmed/37461200
http://dx.doi.org/10.1002/mgg3.2240

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496071/
https://www.ncbi.nlm.nih.gov/pubmed/37461200
http://dx.doi.org/10.1002/mgg3.2240

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