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

Internet

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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