A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia

Pseudoachondroplasia (PSACH) is a relatively common skeletal dysplasia characterized by disproportionate short stature, joint laxity, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. It is known as an autosomal dominant disease which results exclusively from mutatio...

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Detalles Bibliográficos
Autores principales: Chen, Jun, Zhang, Wenbing, He, Jinzhou, Zhang, Run, Cao, Yinqiang, Liu, Xing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411627/
https://www.ncbi.nlm.nih.gov/pubmed/30906833
http://dx.doi.org/10.1016/j.gendis.2018.02.004

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