A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report

BACKGROUND: Type III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb. CLC-Kb is mainly located in the thick ascending limb of Henle's loop and regulates chloride efflux from tubular epithelial...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Lan, Chen, Xiaohui, Xiong, Jiaojiao, Lei, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10149701/
https://www.ncbi.nlm.nih.gov/pubmed/37138571
http://dx.doi.org/10.3389/fped.2023.1034923

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10149701/
https://www.ncbi.nlm.nih.gov/pubmed/37138571
http://dx.doi.org/10.3389/fped.2023.1034923

Ejemplares similares