Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers‐Danlos syndrome in one large Chinese family

Vascular Ehlers‐Danlos syndrome (vEDS) is a rare and severe hereditary connective tissue disease arising from a mutation in the type III collagen alpha I chain (COL3A1) gene, with a poor prognosis due to exceptional vascular ruptures and premature death. Herein, starting from a 36‐year‐old Chinese m...

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Detalles Bibliográficos
Autores principales: Liang, Mei, Chen, Chong, Dai, Yan, Chang, Yunbing, Gao, Yushun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742230/
https://www.ncbi.nlm.nih.gov/pubmed/34845833
http://dx.doi.org/10.1111/jcmm.17063

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742230/
https://www.ncbi.nlm.nih.gov/pubmed/34845833
http://dx.doi.org/10.1111/jcmm.17063

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