مقال بحثي وصول مفتوح
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 which are character …