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- W4312823065 abstract "<br>A 7-year-old girl with bilateral cataracts, along with photosensitivity, was suspected to have xeroderma pigmentosum. Further dermatological examination confirmed the proband had dry skin, brittle hair, high-arched palate, and ichthyosis. The proband underwent bilateral cataract surgery. Her best corrected visual acuity (BCVA) improved to 6/9 in both eyes. Polarizing light microscopic observation of the proband eyebrow hair shaft resembled tiger tail-like stripes, which is an authentic clinical feature associated with trichothiodystrophy (TTD). Furthermore, on whole exome sequencing (WES) of the proband, mutations in the <i>ERCC2</i> gene were found to be strongly associated with TTD1.<br>" @default.
- W4312823065 created "2023-01-05" @default.
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- W4312823065 date "2022-01-01" @default.
- W4312823065 modified "2023-09-24" @default.
- W4312823065 title "A rare case in a child with mild trichothiodystrophy associated with ERCC2 gene" @default.
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- W4312823065 doi "https://doi.org/10.4103/ijo.ijo_1217_22" @default.
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