Associated Papers
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.
Suzuki R et al.
Kidney International Reports, 2023
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.
Nishiyama K et al.
Bmc Medical Genetics, 2020
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 2020
Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene.
Arima M et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
The etiology of congenital nephrotic syndrome: current status and challenges.
Wang JJ et al.
World Journal of Pediatrics : Wjp, 2016
First Japanese case of Pierson syndrome with mutations in LAMB2.
Togawa H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2013
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V et al.
Human Mutation, 2010
Ophthalmological aspects of Pierson syndrome.
Bredrup C et al.
American Journal of Ophthalmology, 2008
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K et al.
Kidney International, 2006
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