Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review

Background: The phenotypes of TRPC6 mutations have been reported mainly in familial and sporadic focal segmental glomerulosclerosis (FSGS), which can occur in both adults and children. Herein, we report on two children with novel TRPC6 spontaneous missense mutations associated with immune complex-me...

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Detalles Bibliográficos
Autores principales: Wang, Meiqiu, Wang, Ren, He, Xu, Yu, Min, Xia, Zhengkun, Gao, Chunlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249804/
https://www.ncbi.nlm.nih.gov/pubmed/32509715
http://dx.doi.org/10.3389/fped.2020.00269

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249804/
https://www.ncbi.nlm.nih.gov/pubmed/32509715
http://dx.doi.org/10.3389/fped.2020.00269

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