Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

BACKGROUND: Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2. The majority of the COL5A2 mutations reported to date represent structural mutations, including missense or in‐frame exon‐skipping sp...

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Detalles Bibliográficos
Autores principales: Ma, Na, Zhu, Zhenhua, Liu, Jing, Peng, Ying, Zhao, Xiaomeng, Tang, Weiling, Jia, Zhengjun, Xi, Hui, Gao, Bodi, Wang, Hua, Du, Juan
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/PMC8172199/
https://www.ncbi.nlm.nih.gov/pubmed/33834621
http://dx.doi.org/10.1002/mgg3.1632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172199/
https://www.ncbi.nlm.nih.gov/pubmed/33834621
http://dx.doi.org/10.1002/mgg3.1632

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