Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review
por: Li, Xiaojie, et al.
Publicado: (2022) -
IgM deposition is a risk factor for delayed remission and early relapse of the pediatric minimal change disease
por: Ju, Tao, et al.
Publicado: (2023) -
Using MEST-C Scores and the International Study of Kidney Disease in Children Classification to Predict Outcomes of Henoch–Schönlein Purpura Nephritis in Children
por: Wang, Meiqiu, et al.
Publicado: (2021) -
Glomerular capillary C3 deposition as a risk factor for unfavorable renal outcome in pediatric primary focal segmental glomerular sclerosis
por: Peng, Yingchao, et al.
Publicado: (2023) -
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
por: Alhamoudi, Kheloud M., et al.
Publicado: (2020)