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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2011
Soggetti:
Research
Accesso online: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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