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- W2130101797 abstract "Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism." @default.
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- W2130101797 date "2006-01-01" @default.
- W2130101797 modified "2023-10-16" @default.
- W2130101797 title "Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism" @default.
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- W2130101797 doi "https://doi.org/10.1080/13816810600862543" @default.
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