Publications by authors named "Sana Karoui"
Ophthalmic Genet
February 2024
Article Synopsis
- Ectrodactyly is a rare limb malformation that can occur alone or as part of syndromes, such as ADULT syndrome, which includes traits like ectodermal dysplasia and lacrimal duct issues.
- A case study reported a patient with ADULT syndrome showing additional eye issues and congenital cone dystrophy, alongside her sister who had the same condition.
- Whole Exome Sequencing revealed two important genetic variants, linking the patient's ectrodactyly and the sisters' cone dystrophy to different genetic causes.
