A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

BACKGROUND: Dent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure. CASE PRESENTATION: Here we report one 11-year-old Chinese boy (proband...

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Detalles Bibliográficos
Autores principales: Ni, Jiajia, Zhu, Yaju, Lin, Fujun, Guan, Wenbin, Jin, Jing, Li, Yufeng, Guo, Guimei
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/PMC9702988/
https://www.ncbi.nlm.nih.gov/pubmed/36452359
http://dx.doi.org/10.3389/fped.2022.1043502

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702988/
https://www.ncbi.nlm.nih.gov/pubmed/36452359
http://dx.doi.org/10.3389/fped.2022.1043502

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