Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ejaz, Areeba, Ali, Meher B., Siddiqui, Fatima, Ali, Mashal B., Jamal, Ammarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2020
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