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Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis

11 Jul 2019

Abstract excerpt

Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. It is caused by pathogenic variants in the ASPH gene. To date, only 13 individuals with Traboulsi syndrome from three families have been reported in the literature. We report the first UK family with Traboulsi syndrome associated...

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PMID: 31274573
DOI: 10.1097/mcd.0000000000000287

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