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

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 causa...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10328987/
https://www.ncbi.nlm.nih.gov/pubmed/37419942
http://dx.doi.org/10.1038/s41598-023-37855-x