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Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, and chronic kidney disease. Infants may mani...

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Detalles Bibliográficos
Autores principales: Wen, Min, Shen, Tian, Wang, Ying, Li, Yongzhen, Shi, Xiaoliu, Dang, Xiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292867/
https://www.ncbi.nlm.nih.gov/pubmed/30581818
http://dx.doi.org/10.3389/fmed.2018.00347