NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
Key Clinical Message Our case report and review contribute to the understanding of ocular manifestations in NPHP1 ciliopathies by reinforcing the relationship between pathogenic genetic variants and a wide array of ophthalmic abnormalities.
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2023-09-01
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| Col·lecció: | Clinical Case Reports |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/ccr3.7818 |
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