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Article

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

11 Nov 2015

Abstract excerpt

BACKGROUND: Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens. We identified bilateral myopic...

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PMID: 26560304
DOI: 10.1186/s13023-015-0360-4

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