Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse
Sally H. Cross, Lisa McKie, Margaret Keighren, Katrine M. West, Caroline Thaung, Tracey Davey, Dinesh C. Soares, Luis Sánchez‐Pulido, Ian J. Jackson
The paper identifies TMEM98 mutations in mice that cause retinal defects similar to human nanophthalmos, showing localized photoreceptor laminar disruption rather than small eyes.
Investigative Ophthalmology & Visual Science · Jul 2, 2019Peer-reviewedMolecular Biology