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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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468586 | PMC |
| http://dx.doi.org/10.1002/ccr3.7818 | DOI Listing |
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