A carregar...
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,...
Na minha lista:
| Publicado no: | Eur J Med Res |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4851796/ https://ncbi.nlm.nih.gov/pubmed/27130041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40001-016-0215-z |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|