Articles

• Search by keyword
• Search by citation

2 result(s) for 'swinnen' within Orphanet Journal of Rare Diseases

1. The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

   Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to ca...

   Authors: Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince and Oliver Semler

   Citation: Orphanet Journal of Rare Diseases 2023 18:34

   Content type: Review Published on: 22 February 2023

   • View Full Text
   • View PDF

2. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

   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...

   Authors: 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 and Els MR De Leenheer

   Citation: Orphanet Journal of Rare Diseases 2011 6:88

   Content type: Research Published on: 29 December 2011

   • View Full Text
   • View PDF