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

OBJECTIVE: To report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population. METHODS: Retrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis. RESULTS: A Chinese Zang ethnic girl could not stand o...

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Detalles Bibliográficos
Autores principales: Guan, Yu-Jia, Guo, Yan-Nan, Peng, Wen-Tao, Liu, Li-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051362/
https://www.ncbi.nlm.nih.gov/pubmed/35498770
http://dx.doi.org/10.3389/fped.2022.860990

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051362/
https://www.ncbi.nlm.nih.gov/pubmed/35498770
http://dx.doi.org/10.3389/fped.2022.860990

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