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Article

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

Scientific reports - 7 Jul 2023

Hassall Mark M, Javadiyan Shari, Klebe Sonja, Awadalla Mona S, Sharma Shiwani, Qassim Ayub, White Melissa, Thomas Paul Q, Craig Jamie E, Siggs Owen M

Abstract excerpt

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 for causation has been limited. Here we used CRISPR/Cas9 mutagenesis to recreate the human nanophthalmos-associated TMEM98...

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Identifiers

PMID: 37419942
DOI: 10.1038/s41598-023-37855-x
PMCID: PMC10328987

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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