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Pierson Syndrome Associated with Hypothyroidism and Septic Shock
Pierson syndrome is caused by mutations in the laminin β2 gene causing absent β2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7757929/ https://www.ncbi.nlm.nih.gov/pubmed/33414946 http://dx.doi.org/10.18295/squmj.2020.20.04.017 |