A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expres...

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Detalles Bibliográficos
Autores principales: Guo, Bing-Bing, Jin, Jie-Yuan, Yuan, Zhuang-Zhuang, Zeng, Lei, Xiang, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960025/
https://www.ncbi.nlm.nih.gov/pubmed/33748277
http://dx.doi.org/10.1155/2021/6678531

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960025/
https://www.ncbi.nlm.nih.gov/pubmed/33748277
http://dx.doi.org/10.1155/2021/6678531

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