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Article

A new mutation associated with Pierson syndrome.

Archivos argentinos de pediatria - 1 Jun 2020

Kulali Ferit, Calkavur Sebnem, Basaran Cemaliye, Serdaroglu Erkin, Kose Melis, Saka Guvenc Merve

Abstract excerpt

Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin β2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of...

Topics

Female
Genetic Markers
Homozygote
Humans
Infant
Laminin
Mutation
Myasthenic Syndromes, Congenital
Nephrotic Syndrome
Phenotype
Pupil Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32470267
DOI: 10.5546/aap.2020.eng.e288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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