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- W2018339962 abstract "Abstract Choroideremia is a generalized hereditary degeneration following an X-linked recessive trait. Its pathogenesis is related to an early atrophy of the choroidal circulation at the choriocapillaris and at the retinal pigment epithelium. Because it is inherited as an X-linked trait, it affects males most severely with female carriers generally being relatively asymptomatic. A report of an extremely rare case of a presumed female carrier with male-like visual symptoms and clinical signs is presented. In addition to a discussion of this atypical case of a female carrier with progressive degeneration, an overview of the disease is presented, including clinical features, pathophysiology, differential diagnoses and management." @default.
- W2018339962 created "2016-06-24" @default.
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- W2018339962 date "1998-03-01" @default.
- W2018339962 modified "2023-09-27" @default.
- W2018339962 title "Progressive chorioretinal degeneration in a female carrier of the choroideremia gene: A case report" @default.
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- W2018339962 doi "https://doi.org/10.1016/s0953-4431(97)10026-1" @default.
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