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Revealing hidden genetic diagnoses in the ocular anterior segment disorders


Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion.

Type Journal
ISBN 1530-0366
Authors Ma, Alan; Yousoof, Saira; Grigg, John R.; Flaherty, Maree; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Fisk, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Karaconji, Tanya; Elder, James E.; Enriquez, Annabelle; Wilson, Meredith; Amor, David J.; Stutterd, Chloe A.; Kamien, Benjamin; Nelson, John; Dinger, Marcel E.; Bennetts, Bruce; Jamieson, Robyn V.
Responsible Garvan Author (missing name)
Published Date 2020-10-31
Published Volume 22
Published Issue 10
Published Pages 1623-1632
Status Published in-print
DOI 10.1038/s41436-020-0854-x
URL link to publisher's version