Traboulsi syndrome: A rare eye disease and its genetic association

Traboulsi syndrome: A rare eye disease and its genetic association

Traboulsi syndrome is a multi-organ disorder typically characterized by pleiotropic manifestations including facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB). It is caused by mutations in the candidate gene ASPH, which encodes an enzyme as...

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Bibliographic Details
Main Authors: Prakash Chermakani, Periasamy Sundaresan
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:TNOA Journal of Ophthalmic Science and Research
Subjects:
anterior segment
asph (aspartyl/asparaginyl beta-hydroxylase)
ectopia lentis
fdlab syndrome
lebanon
spontaneous filtering bleb
traboulsi syndrome
Online Access:http://www.tnoajosr.com/article.asp?issn=2589-4528;year=2023;volume=61;issue=1;spage=41;epage=45;aulast=Chermakani

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http://www.tnoajosr.com/article.asp?issn=2589-4528;year=2023;volume=61;issue=1;spage=41;epage=45;aulast=Chermakani

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