Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation

BACKGROUND: Congenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was a chromosomal disease wi...

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Detalles Bibliográficos
Autores principales: Li, Liangliang, Yi, Zhi, Xi, Hongmin, Ma, Lili, Shao, Hui, Wang, Wenwen, Pan, Hong, Li, Miaomiao, Jiang, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708249/
https://www.ncbi.nlm.nih.gov/pubmed/31443662
http://dx.doi.org/10.1186/s13052-019-0690-2

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