Article
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Human genomics - 2 Jun 2023
Damián Alejandra, Núñez-Moreno Gonzalo, Jubin Claire, Tamayo Alejandra, de Alba Marta Rodríguez, Villaverde Cristina, Fund Cédric, Delépine Marc, Leduc Aurélie, Deleuze Jean François, Mínguez Pablo, Ayuso Carmen, Corton Marta
Abstract excerpt
BACKGROUND: Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream regulatory region (DRR) are present in about 25% of patients; however, only a few complex rearrangements have been described to date. Here, we performed nanopore-based whole-genome sequencing...
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