DOI: 10.1111/j.1755-3768.2012.t005.x
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Abstract: Purpose To define the natural history,genotype‐phenotype correlation and differential diagnosis of the Brittle Cornea Syndrome (BCS),or Ehlers Danlos Syndrome (EDS) type VIB,caused by mutations in ZNF469 and PRDM5 Methods We evaluated one family in which 5 out of 8 siblings suffered from BCS. We performed complete eye and systemic evaluations of the siblings and their parents. We sequenced the candidate gene,ZNF469 Results On ocular evaluation we found keratoglobus and thinned corneas that tended to perforate … Show more

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