Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)

Ehlers–Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with various subtypes of EDS. Clinical evaluation and genetic testing with w...

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Detalles Bibliográficos
Autores principales: Yang, Fang, Yang, Rong‐Juan, Li, Qian, Zhang, Jing, Meng, Yan‐Xin, Liu, Xiao‐Jun, Yao, Yong‐Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922958/
https://www.ncbi.nlm.nih.gov/pubmed/35119775
http://dx.doi.org/10.1002/mgg3.1885

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922958/
https://www.ncbi.nlm.nih.gov/pubmed/35119775
http://dx.doi.org/10.1002/mgg3.1885

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