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Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia

COL2A1-related disorders represent a heterogeneous group of skeletal dysplasias with a wide phenotypic spectrum. Our aim is to characterize the clinical and molecular phenotypes of Chinese patients with COL2A1-related dysplasia and to explore their phenotype-genotype relations. Clinical data were co...

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Detalles Bibliográficos
Autores principales:	Xu, Yang, Li, Li, Wang, Chun, Yue, Hua, Zhang, Hao, Gu, Jiemei, Hu, Weiwei, Liu, Lianyong, Zhang, Zhenlin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Ivyspring International Publisher 2020
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019135/ https://www.ncbi.nlm.nih.gov/pubmed/32071555 http://dx.doi.org/10.7150/ijbs.38811

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