Munevver B. Cicekdal

Oct 25, 2024 | nature.com | Fabiola Ceroni |Munevver B. Cicekdal |Nicolas Chassaing |Thomas Naert |Emma Kivuva |Soeren S Lienkamp | +5 more

AbstractAnophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to disease burden, characterising their impact on gene function and phenotype remains challenging. Furthermore, little is known of the nature and extent of their contribution to AMC phenotypes.