Article
Long term ophthalmic complications of distal arthrogryposis type 5D.
Ophthalmic genetics - 1 Feb 2023
Cohen Dana, Sloma Ronen, Pizem Hadas, Fedida Ayalla, Kalfon Limor, Ovadia Relli, Segal Zvi, Kassif Yanir, Falik Zaccai Tzippi
Abstract excerpt
BACKGROUND: Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities. MATERIALS AND METHODS: Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis and unusual ophthalmic late expressions of the disease. They were examined and followed up by both ophthalmologists and medical geneticists. Molecular analysis...
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