Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias

Pseudoachondroplasia (PSACH) and autosomal dominant multiple epiphyseal dysplasia (MED) are chondrodysplasias resulting in short-limbed dwarfism, joint pain and stiffness and early onset osteoarthritis. All PSACH, and the largest proportion of MED, result from mutations in cartilage oligomeric matri...

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Detalles Bibliográficos
Autores principales: Briggs, Michael D, Brock, Joanne, Ramsden, Simon C, Bell, Peter A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051597/
https://www.ncbi.nlm.nih.gov/pubmed/24595329
http://dx.doi.org/10.1038/ejhg.2014.30

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