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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3748067/ https://ncbi.nlm.nih.gov/pubmed/23977282 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0072337 |
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