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A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome
BACKGROUND: Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype–phenotype correlations have been reported,...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851796/ https://www.ncbi.nlm.nih.gov/pubmed/27130041 http://dx.doi.org/10.1186/s40001-016-0215-z |