Article
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Nature communications - 26 Oct 2024
Ceroni Fabiola, Cicekdal Munevver B, Holt Richard, Sorokina Elena, Chassaing Nicolas, Clokie Samuel, Naert Thomas, Talbot Lidiya V, Muheisen Sanaa, Bax Dorine A, Kesim Yesim, Kivuva Emma C, Vincent-Delorme Catherine, Lienkamp Soeren S, Plaisancié Julie, De Baere Elfride, Calvas Patrick, Vleminckx Kris, Semina Elena V, Ragge Nicola K
Abstract excerpt
Anophthalmia, 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...
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