Article
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2008
Dietrich Andreas, Matejas Verena, Bitzan Martin, Hashmi Seema, Kiraly-Borri Cathy, Lin Shuan-Pei, Mildenberger Eva, Hoppe Bernd, Palm Lars, Shiihara Takashi, Steiss Jens-Oliver, Tsai Jeng-Daw, Vester Udo, Weber Stefanie, Wühl Elke, Zepf Kristina, Zenker Martin
Abstract excerpt
Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of the central nervous system. GMS likely represents a heterogeneous group of disorders with hitherto unknown genetic etiology. The clinical phenotype to some extent overlaps that of Pierson syndrome (PS), which comprises congenital nephrotic syndrome and...
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