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. 2017 Feb 10;176(4):515–519. doi: 10.1007/s00431-017-2871-6
What is known
LAMB2 mutations are associated with Pierson syndrome
• Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits
What is new
• A novel mutation in the LAMB2 gene in two female siblings
• Genotype and clinical phenotype description of a novel LAMB2 mutation