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By Maria de los Angeles Cabrera Zuñiga
Hospital Militar de Especialidades Oftalmologicas - Uploaded on Apr 28, 2025.
- Last modified by Joshua Friedman on Apr 29, 2025.
- Rating
- Appears in
- Miscellaneous
- Condition/keywords
- choroideremia, CHM gene, x linked recessive
- Photographer
- Maria de los Angeles Cabrera Zuñiga. Hospital Militar de Especialidades Oftalmológicas.
- Imaging device
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Fundus camera
Optos - Description
- Fundus photograph of a 48-year-old man with choroideremia. Whole-exome sequencing revealed the variant NM_000390.4:c.1336del (p.Arg446Valfs*12) in the CHM gene.