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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Bibliographic Details
Main Authors: Yu-Jia Guan (Author), Yan-Nan Guo (Author), Wen-Tao Peng (Author), Li-Li Liu (Author)
Format: Book
Published: Frontiers Media S.A., 2022-04-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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