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,...

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Detalles Bibliográficos
Autores principales: Zemrani, Boutaina, Cachat, François, Bonny, Olivier, Giannoni, Eric, Durig, Jacques, Fellmann, Florence, Chehade, Hassib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
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

Internet

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

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