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Article

Variable phenotype of Pierson syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2008

Choi Hyun Jin, Lee Beom Hee, Kang Ju Hyung, Jeong Hyoen Joo, Moon Kyung Chul, Ha Il Soo, Yu Young Suk, Matejas Verena, Zenker Martin, Choi Yong, Cheong Hae Il

Abstract excerpt

Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin beta2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria. Here, we describe two cases of Pierson syndrome involving atypical phenotypes. Patient 1 presented with congenital microcoria and infantile nephrotic syndrome. Despite persistent nephrotic syndrome, her renal function was...

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Source

Identifiers

PMID: 18278520
DOI: 10.1007/s00467-008-0748-7

Genes

LAMB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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