Article
A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2013
Aydin B, Ipek M S, Ozaltin F, Zenciroğlu A, Dilli D, Beken S, Okumuş N, Hoşağasi N, Saygili-Karagöl B, Kundak A, Renda R, Aydog O
Abstract excerpt
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding...
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