Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

BACKGROUND: Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing impairment usually starts between the second and fourth decade of life as a...

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Detalhes bibliográficos
Main Authors: Swinnen, Freya KR, Coucke, Paul J, De Paepe, Anne M, Symoens, Sofie, Malfait, Fransiska, Gentile, Filomena V, Sangiorgi, Luca, D'Eufemia, Patrizia, Celli, Mauro, Garretsen, Ton JTM, Cremers, Cor WRJ, Dhooge, Ingeborg JM, De Leenheer, Els MR
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3267664/
https://ncbi.nlm.nih.gov/pubmed/22206639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-88
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