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NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
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.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468586/ https://www.ncbi.nlm.nih.gov/pubmed/37663822 http://dx.doi.org/10.1002/ccr3.7818 |