NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases

Shivania Reddy,Russell Simmers,Arth H. Shah,Natario L. Couser

Clinical Case Reports（2023）

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摘要

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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ophthalmic manifestations,ciliopathies

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