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Clinical data of the probands with CORD and identified potential pathogenic mutations.

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Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_Clinical_data_of_the_probands_with_CORD_and_identified_potential_pathogenic_mutations_/716476
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Note: F = female; M = male; EC = early childhood; FMB = first few months after birth; PV = poor vision; PP = photophobia; NYS = nystagmus; PO = pursuing object; NA = not available; MA = macular atrophy; TPOD = temporal pallor of optic disc; ARA = attenuated retinal arteries; CRD = carpet-like retinal degeneration.*This patient did not have the “electronegative” ERG in the standard combined response.
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2015-12-02
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