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Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype
- Source :
- Journal of Neuro-Ophthalmology. 41:e290-e292
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
-
Abstract
- FASTQ files of proband's WES (whole exome sequencing)
- Subjects :
- Adult
Retinal Ganglion Cells
Pathology
medicine.medical_specialty
Time Factors
Mitochondrial Proteins
Atrophy
RTN4IP1
medicine
Rod-cone dystrophy
Humans
OPA10
business.industry
Rod Cell Outer Segment
medicine.disease
Phenotype
Optic Atrophy
Ophthalmology
Mutation
Female
Neurology (clinical)
Visual Fields
Carrier Proteins
business
Cone-Rod Dystrophies
Tomography, Optical Coherence
Follow-Up Studies
Subjects
Details
- ISSN :
- 10708022
- Volume :
- 41
- Database :
- OpenAIRE
- Journal :
- Journal of Neuro-Ophthalmology
- Accession number :
- edsair.doi.dedup.....30c51877e00ea1a581a96b53699c3101