A novel COMP mutation in a pseudoachondroplasia family of Chinese origin

BACKGROUND: Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (COMP). Only a small number of studies have documented the clinical phenotype and genetic basis in Chinese PSACH patients. CASE PRESENTATION: We investigated a four-generat...

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Detalles Bibliográficos
Autores principales: Dai, Li, Xie, Liang, Wang, Yanping, Mao, Meng, Li, Nana, Zhu, Jun, Kim, Christopher, Zhang, Yawei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119180/
https://www.ncbi.nlm.nih.gov/pubmed/21599986
http://dx.doi.org/10.1186/1471-2350-12-72

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