Research Explorer

Project

Stickler syndrome: otological and orofacial features in distinct genotypes
Acronym
Stickler syndroom
Code
3F025911
Duration
01 October 2011 → 30 September 2015
Funding
Regional and community funding: Special Research Fund, Research Foundation - Flanders (FWO)
Research disciplines
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Otorhinolaryngology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Otorhinolaryngology
    • Speech, language and hearing sciences
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Otorhinolaryngology
Keywords
hearing loss cleft palate connective tissue disorder stickler syndrome genetics
 
Project description
 

Stickler syndrome, a hereditary connective tissue disorder caused by mutations in collagen genes, has a wide variety of clinical manifestations. Currently, knowledge is lacking about otological and orofacial characteristics. In this study, we want to gain insight in this, as well as a better understanding of the molecular background and pathogenesis on hearing loss and cleft palate of Stickler syndrome.