Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
ObjectiveTo report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population.MethodsRetrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis.ResultsA Chinese Zang ethnic girl could not stand or walk u...
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Format: | Book |
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Frontiers Media S.A.,
2022-04-01T00:00:00Z.
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A1234.567 |
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