Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene

Pincay, J., Rodriguez, M., Kaushal, D., & Tsang, S. H. (2024). Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene. Documenta Ophthalmologica. https://doi.org/10.1007/s10633-024-09985-8

Authors:

Jorge Pincay

Marilyn Rodriguez

Divya Kaushal

Stephen H Tsang

Affiliated Authors:

Jorge Pincay

Marilyn Rodriguez

Divya Kaushal

Stephen H Tsang

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Ophthalmology
- Department of Pathology and Cell Biology

Author Keywords:

adp-ribosylation factor-like gtpase 6 (arl6)

bardet-biedl syndrome

cone-dystrophy

full field electroretinogram

retinitis pigmentosa

rod-cone dystrophy

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Publication Type:

Article

Unique ID:

10.1007/s10633-024-09985-8

PMID:

39078565

DOI:

10.1007/s10633-024-09985-8

Journal:

Documenta Ophthalmologica

Publication Date:

2024-07-30

Data Source:

PubMed

Source Link:

View PubMed Record

View Web of Science Record

View Scopus Record

Record Created:

Monday, August 26, 2024 - 14:58