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

Reddy, Shivania; Simmers, Russell; Shah, Arth; Couser, Natario

doi:10.1002/ccr3.7818

Clinical Case Reports

2023

DOI: 10.1002/ccr3.7818

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

Shivania Reddy,

Russell Simmers,

Arth Shah

et al.

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

Abstract: Key Clinical MessageOur 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.

Cited by 0 publications

References 58 publications

No citations

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