A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia

Pseudoachondroplasia (PSACH) is a rare and severe genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. Currently, the diagnosis of PSACH is based mainly on family history, physical examination and radiographic evaluation. Gen...

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Detalles Bibliográficos
Autores principales: Luo, Huaichao, Yu, Sisi, Lin, Ying, Guo, Qi, Ma, Rongchuan, Ye, Zimeng, Di, Yanan, Li, Ning, Miao, Yuanying, Zhou, Yu, Li, Yuanfeng, Yang, Jiyun, Yang, Zhenglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899602/
https://www.ncbi.nlm.nih.gov/pubmed/27330822
http://dx.doi.org/10.1038/hgv.2016.9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899602/
https://www.ncbi.nlm.nih.gov/pubmed/27330822
http://dx.doi.org/10.1038/hgv.2016.9

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