Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

被引：0
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作者：
Freya KR Swinnen
Paul J Coucke
Anne M De Paepe
Sofie Symoens
Fransiska Malfait
Filomena V Gentile
Luca Sangiorgi
Patrizia D'Eufemia
Mauro Celli
Ton JTM Garretsen
Cor WRJ Cremers
Ingeborg JM Dhooge
Els MR De Leenheer
机构：
[1] Ghent University Hospital,Department of Otorhinolaryngology
[2] Ghent University Hospital,Center for Medical Genetics
[3] Rizzoli Orthopaedic Institute,Department of Medical Genetics and Rare Orthopaedic Diseases
[4] La Sapienza University of Rome,Department of Pediatrics
[5] Medical Centre Alkmaar,Department of Otorhinolaryngology
[6] FC Donders Institute for Neurosciences,Department of Otorhinolaryngology
[7] Radboud University Nijmegen Medical Centre,undefined
来源：
Orphanet Journal of Rare Diseases | / 6卷
关键词：
Osteogenesis Imperfecta; hearing loss; genotype-phenotype correlation;
D O I：
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摘要：
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