Article
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Molecular genetics and metabolism - 1 Jul 2013
Rohrbach Marianne, Spencer Helen L, Porter Louise F, Burkitt-Wright Emma M M, Bürer Céline, Janecke Andreas, Bakshi Madhura, Sillence David, Al-Hussain Hailah, Baumgartner Matthias, Steinmann Beat, Black Graeme C M, Manson Forbes D C, Giunta Cecilia
Abstract excerpt
Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fragility, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.