Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

<p>Abstract</p> <p>Background</p> <p>Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes <it>COL1A1 </it>and <it>COL1A2 </it>and is associated with hearing loss in approximately half of t...

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Bibliographic Details
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
Format: Article
Language:English
Published: BMC 2011-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Osteogenesis Imperfecta
<it>COL1A1</it>
<it>COL1A2</it>
hearing loss
genotype-phenotype correlation
Online Access:http://www.ojrd.com/content/6/1/88

Internet

http://www.ojrd.com/content/6/1/88

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