Article
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Orphanet journal of rare diseases - 29 Dec 2011
Swinnen Freya K R, Coucke Paul J, De Paepe Anne M, Symoens Sofie, Malfait Fransiska, Gentile Filomena V, Sangiorgi Luca, D'Eufemia Patrizia, Celli Mauro, Garretsen Ton J T M, Cremers Cor W R J, Dhooge Ingeborg J M, De Leenheer Els M R
Abstract excerpt
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 conductive hearing loss, frequently evolving to mixed hearing loss thereafter. A minority of patients develop pure...
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