CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations

BACKGROUND: No formal diagnostic criteria for progressive pseudo‐rheumatoid dysplasia (PPD) are available because of insufficient clinical data, which results in that PPD is often misdiagnosed with other diseases. Whole exome sequencing (WES) and Sanger sequencing were employed to reveal the novel m...

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Detalles Bibliográficos
Autores principales: Wang, Yingjie, Xiao, Ke, Yang, Yuemei, Wu, Zhihong, Jin, Jin, Qiu, Guixing, Weng, Xisheng, Zhao, Xiuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336755/
https://www.ncbi.nlm.nih.gov/pubmed/32351055
http://dx.doi.org/10.1002/mgg3.1261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336755/
https://www.ncbi.nlm.nih.gov/pubmed/32351055
http://dx.doi.org/10.1002/mgg3.1261

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