Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy Article Swipe
Alessio Antropoli
,
Lorenzo Bianco
,
Xavier Zanlonghi
,
Amine Benadji
,
Christel Condroyer
,
Aline Antonio
,
Julien Navarro
,
Claire‐Marie Dhaenens
,
José‐Alain Sahel
,
Christina Zeitz
,
Isabelle Audo
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1167/iovs.66.4.7
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1167/iovs.66.4.7
Mutations in RP1L1 cause a spectrum of diseases, including autosomal dominant OMD, autosomal recessive OMD, and autosomal recessive rod-cone dystrophies, occasionally presenting with pseudovitelliform maculopathy.
Related Topics
Concepts
Medicine
Ophthalmology
Maculopathy
Fundus (uterus)
Retinitis pigmentosa
Compound heterozygosity
Visual acuity
Retinal
Retinopathy
Genetics
Phenotype
Biology
Endocrinology
Gene
Diabetes mellitus
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1167/iovs.66.4.7
- https://iovs.arvojournals.org/arvo/content_public/journal/iovs/938709/i1552-5783-66-4-7_1743509396.51337.pdf
- OA Status
- gold
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4409118916
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4409118916Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1167/iovs.66.4.7Digital Object Identifier
- Title
-
Phenotypic and Genotypic Characterization of RP1L1-Associated RetinopathyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-04-02Full publication date if available
- Authors
-
Alessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, Amine Benadji, Christel Condroyer, Aline Antonio, Julien Navarro, Claire‐Marie Dhaenens, José‐Alain Sahel, Christina Zeitz, Isabelle AudoList of authors in order
- Landing page
-
https://doi.org/10.1167/iovs.66.4.7Publisher landing page
- PDF URL
-
https://iovs.arvojournals.org/arvo/content_public/journal/iovs/938709/i1552-5783-66-4-7_1743509396.51337.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://iovs.arvojournals.org/arvo/content_public/journal/iovs/938709/i1552-5783-66-4-7_1743509396.51337.pdfDirect OA link when available
- Concepts
-
Medicine, Ophthalmology, Maculopathy, Fundus (uterus), Retinitis pigmentosa, Compound heterozygosity, Visual acuity, Retinal, Retinopathy, Genetics, Phenotype, Biology, Endocrinology, Gene, Diabetes mellitusTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
30Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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