Article
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome.
American journal of medical genetics. Part A - 15 Feb 2007
Wühl Elke, Kogan Jillene, Zurowska Aleksandra, Matejas Verena, Vandevoorde Rene G, Aigner Thomas, Wendler Olaf, Lesniewska Iga, Bouvier Raymonde, Reis André, Weis Joachim, Cochat Pierre, Zenker Martin
Abstract excerpt
Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct eye abnormalities with microcoria reported as the most prominent clinical feature. LAMB2 mutations leading to lack of laminin beta2 were identified as the molecular cause underlying Pierson syndrome. Although LAMB2 is known to be expressed in the neuromuscular system, and...
Topics
- Abnormalities, Multiple
- Base Sequence
- Blindness
- Child, Preschool
- Eye Abnormalities
- Female
- Humans
- Infant
- Laminin
- Molecular Sequence Data