Pseudoachondroplasia/COMP — translating from the bench to the bedside

Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal joints and early onset osteoarthritis. PSACH is caused by mutations in thrombospondin-5 (TSP-5, also known as cartilage oligomeric matrix protein or COMP), a pentameri...

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Detalles Bibliográficos
Autores principales: Posey, Karen LaShea, Alcorn, Joseph L., Hecht, Jacqueline T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209947/
https://www.ncbi.nlm.nih.gov/pubmed/24892720
http://dx.doi.org/10.1016/j.matbio.2014.05.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209947/
https://www.ncbi.nlm.nih.gov/pubmed/24892720
http://dx.doi.org/10.1016/j.matbio.2014.05.006

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