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

Shivania Reddy,Russell Simmers,Arth Shah,Natario Couser

Clinical case reports（2023）

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摘要

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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关键词

coloboma,Joubert syndrome‐4,juvenile nephronophthisis‐1,NPHP1‐related ciliopathies,ophthalmology,senior‐Loken Syndrome‐1

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