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.

Detalles Bibliográficos
Autores principales: Reddy, Shivania, Simmers, Russell, Shah, Arth, Couser, Natario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
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
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author Reddy, Shivania
Simmers, Russell
Shah, Arth
Couser, Natario
author_facet Reddy, Shivania
Simmers, Russell
Shah, Arth
Couser, Natario
author_sort Reddy, Shivania
collection PubMed
description 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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spelling pubmed-104685862023-09-01 NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases Reddy, Shivania Simmers, Russell Shah, Arth Couser, Natario Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-08-30 /pmc/articles/PMC10468586/ /pubmed/37663822 http://dx.doi.org/10.1002/ccr3.7818 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Report
Reddy, Shivania
Simmers, Russell
Shah, Arth
Couser, Natario
NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
title NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
title_full NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
title_fullStr NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
title_full_unstemmed NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
title_short NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
title_sort nphp1‐related ciliopathies: a new case and major review of the ophthalmic manifestations of 147 reported cases
topic Case Report
url 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
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