brittle cornea syndrome

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A disorder (Ehlers–Danlos syndrome type VIB) in which the sclerae of the eye are blue, the cornea is prone to rupture after minor trauma, there is keratoconus or keratoglobus (bulging of the cornea), hyperelasticity of the skin, and hypermobility of the joints. It is caused by mutation in the zinc finger protein encoded by the ZNF469 gene.

Subjects: Medicine and Health.

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