Article
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
BMC biology - 3 Feb 2023
Chee Justine M, Lanoue Louise, Clary Dave, Higgins Kendall, Bower Lynette, Flenniken Ann, Guo Ruolin, Adams David J, Bosch Fatima, Braun Robert E, Brown Steve D M, Chin H-J Genie, Dickinson Mary E, Hsu Chih-Wei, Dobbie Michael, Gao Xiang, Galande Sanjeev, Grobler Anne, Heaney Jason D, Herault Yann, de Angelis Martin Hrabe, Mammano Fabio, Nutter Lauryl M J, Parkinson Helen, Qin Chuan, Shiroishi Toshi, Sedlacek Radislav, Seong J-K, Xu Ying, Brooks Brian, McKerlie Colin, Lloyd K C Kent, Westerberg Henrik, Moshiri Ala
Abstract excerpt
BACKGROUND: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental genes OTX2 or SOX2, the genetic abnormalities underlying the remaining...
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