Article
LAMB2 mutation with different phenotypes in China .
Clinical nephrology - 1 Jan 2017
Zhang Hongwen, Cui Jieyuan, Wang Fang, Xiao Huijie, Ding Jie, Yao Yong
Abstract excerpt
BACKGROUND: Mutations of the LAMB2 gene mainly cause Pierson syndrome (OMIM) #609049), characterized by congenital nephrotic syndrome (CNS) and complex ocular involvements with microcoria as the most prominent clinical feature. However, the phenotypic spectrum of LAMB2-associated disorders is broader, isolated congenital or infantile nephrotic syndrome can also be seen. The aim of this study was to explore the...
Topics
- Abnormalities, Multiple
- Child, Preschool
- China
- Eye Abnormalities
- Female
- Humans
- Infant
- Laminin
- Mutation
- Myasthenic Syndromes, Congenital
- Nephrotic Syndrome
- Phenotype
- Pupil Disorders