Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

@article{Zenker2004HumanLB,
  title={Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.},
  author={Martin Zenker and Thomas Aigner and Olaf Wendler and Tim Tralau and Horst M{\"u}ntefering and Regina Fenski and Susanne Pitz and Val{\'e}rie Schumacher and Brigitte Royer-Pokora and Elke W{\"u}hl and Pierre Cochat and Raymonde Bouvier and Cornelia Kraus and Karlheinz Mark and Henry Madlon and Joerg Doetsch and Wolfgang Rascher and Iwona Maruniak-Chudek and Thomas Lennert and Luitgard M. Neumann and Andr{\'e} Reis},
  journal={Human molecular genetics},
  year={2004},
  volume={13 21},
  pages={2625-32}
}
Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 and NPHS2 accounting for part of cases. We recently delineated a new autosomal recessive entity comprising CNS with diffuse mesangial sclerosis and distinct ocular anomalies with microcoria as the leading clinical feature (Pierson syndrome). On the basis of homozygosity mapping to markers on chromosome 3p14-p22, we identified homozygous or compound heterozygous mutations of LAMB2 in… CONTINUE READING
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