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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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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 |