Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V

Osteogenesis imperfecta (OI) type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. The causative mutation, c.-14C>T in the 5'-untransla...

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Detalles Bibliográficos
Autores principales: Zhang, Zeng, Li, Mei, He, Jin-Wei, Fu, Wen-Zhen, Zhang, Chang-Qing, Zhang, Zhen-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748067/
https://www.ncbi.nlm.nih.gov/pubmed/23977282
http://dx.doi.org/10.1371/journal.pone.0072337

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