About this document
1 s2.0 S1350946222000933 Main by Creme Menthe is a document available to read on EtoBox.
The article discusses congenital aniridia, a complex syndromic disorder characterized by the absence of the iris and associated ocular and systemic abnormalities, primarily caused by mutations in the PAX6 gene. Recent advancements in genetic understanding and diagnostic techniques, such as Next-Generation Sequencing and Whole-Genome Sequencing, have improved the identification of aniridia and its phenotypic variations. The review emphasizes the importance of accurate diagnosis and management strategies, inc
- Author
- Creme Menthe
- Language
- EN