Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2206888
Abstract: BACKGROUND Traboulsi syndrome is a rare disease clinically characterized by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis (EL) and multiple anterior segment abnormalities. MATERIAL AND METHODS An 18-year-old female was referred to the Emergency… read more here.
Keywords: syndrome without; variant; syndrome; asph ... See more keywords
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
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
Traboulsi Syndrome in Pakistan.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2019.06.s37
Abstract: Traboulsi syndrome is characterised by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis and multiple anterior segment abnormalities. The constellation of abnormalities separate it from syndromes related to connective tissue abnormalities which are associated with… read more here.
Keywords: traboulsi syndrome; syndrome pakistan; ectopia lentis;