Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse

Abstract Nanophthalmos is characterised by shorter posterior and anterior segments of the eye, with a predisposition towards high hyperopia and primary angle-closure glaucoma. Variants in TMEM98 have been associated with autosomal dominant nanophthalmos in multiple kindreds, but definitive evidence...

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Bibliographic Details
Main Authors: Mark M. Hassall, Shari Javadiyan, Sonja Klebe, Mona S. Awadalla, Shiwani Sharma, Ayub Qassim, Melissa White, Paul Q. Thomas, Jamie E. Craig, Owen M. Siggs
Format: Article
Language:English
Published: Nature Portfolio 2023-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-37855-x