Background Congenital nephrotic syndrome (CNS), defined as heavy proteinuria,
hypoalbuminemia, hyperlipidemia and edema presenting in the first 0-3 months of life, may …

Abstract Laminin subunit beta-2 (LAMB2)-associated disease, termed Pierson syndrome,
presents with congenital nephrotic syndrome and ocular and neuromuscular symptoms. In …

This report describes a novel mutation of LAMB2, the gene associated with Pierson
syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c. 970T> …

Null variants in LAMB2 cause Pierson syndrome (PS), a severe congenital nephrotic
syndrome with ocular and neurological defects. Patients' kidney specimens show complete …

Background LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal
recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) …

Objective: Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder
characterized by congenital nephrotic syndrome and complex ocular abnormalities. Severe …

肾小球基底膜(GBM) 是构成肾小球滤过屏障的重要组成成分, 各种编码GBM
相关蛋白基因变异可能导致GBM 结构和功能异常从而引起多种原发性肾小球疾病, 如Alport …

Background: Mutations of the LAMB2 gene mainly cause Pierson syndrome (OMIM)#
609049), characterized by congenital nephrotic syndrome (CNS) and complex ocular …

目的报道2 例LAMB2 基因突变导致的激素耐药型肾病综合征病例, 并复习相关文献,
总结LAMB2 基因突变患儿的基因型, 临床和病理表型的特征. 方法两例LAMB2 …

The laminins (LM) are a family of basement membrane glycoproteins with essential roles in
supporting epithelia, endothelia, nerve and muscle adhesion, and in regulating a range of …