Publications by authors named "Yvonne Hilhorts-Hofstee"
Eur J Hum Genet
August 2010
Article Synopsis
- * The study analyzed 188 patients and found 77 distinct mutations in COL2A1, with specific mutations leading to notable eye issues like vitreous anomalies and retinal detachments.
- * A scoring system was developed to help assess the likelihood of COL2A1 mutations based on symptoms like cleft palate and family history, improving diagnostic precision for Stickler syndrome type 1.
