Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant

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, Yan-Nan Guo, Wen-Tao Peng, Li-Li Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Pediatrics
Subjects:
cystinosis
CTNS gene mutation
Fanconi syndrome
renal tubular acidosis
genetics
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.860990/full

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