Article

More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

2020-11-12

Abstract excerpt

Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include hearing loss, but also signs of connective tissue fragility, placing it in the Ehlers-Danlos syndrome (EDS) spectrum. It is caused by biallelic pathogenic variants in ZNF469 or PRDM5, which presumably encode...

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Literature Corpus work: 4ed67c41-cb43-5112-95c2-293703a3ed00
DOI: 10.22541/au.160521847.70334534/v1

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