Choroideremia

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File number: 133130


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    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
    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.

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