Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.
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DOI: 10.1097/mcd.0000000000000287
Abstract: 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… read more here.
Keywords: syndrome due; asph mutation; syndrome; traboulsi syndrome ... See more keywords