Article
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
Human mutation - 1 Jan 2004
Menzel Olivier, Bekkeheien Reidunn C J, Reymond Alexandre, Fukai Naomi, Boye Eileen, Kosztolanyi Gyorgy, Aftimos Salim, Deutsch Samuel, Scott Hamish S, Olsen Bjorn R, Antonarakis Stylianos E, Guipponi Michel
Abstract excerpt
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment, and congenital encephalocele. Pathogenic mutations in the COL18A1 gene on 21q22.3 were recently identified in KNO families. Analysis of two unrelated KNO families from Hungary and New Zealand allowed us to confirm the involvement of COL18A1 in the pathogenesis of KNO and to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.