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Orthopaedic manifestations of pseudoachondroplasia

PURPOSE: In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia. Pseudoachondroplasia is caused by a mutation in the collagen oligomeric matrix protein gene (COMP) gene on chromosome 19p13...

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Detalles Bibliográficos
Autores principales: Weiner, D. S., Guirguis, J., Makowski, M., Testa, S., Shauver, L., Morgan, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Editorial Society of Bone & Joint Surgery 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701439/
https://www.ncbi.nlm.nih.gov/pubmed/31489048
http://dx.doi.org/10.1302/1863-2548.13.190066