European Journal of Human Genetics

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Genotype−phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Ernie M H F Bongers, Frans T Huysmans, Elena Levtchenko, Jacky W de Rooy, Johan G Blickman, Ronald J C Admiraal, Patrick L M Huygen, Johannes R M Cruysberg, Pauline A M P Toolens, Judith B Prins, Paul F M Krabbe, George F Borm, Jeroen Schoots, Hans van Bokhoven, Angela M F van Remortele, Lies H Hoefsloot, Albert van Kampen and Nine V A M Knoers

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Figure 1.

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Schematic presentation of putative pathogenic pathways underlying the phenotype of nail-patella syndrome. The hypothesised molecular bases underlying ocular anomalies and hearing impairment and clinical findings of possible hearing impairment and psychological symptoms are indicated by dotted arrows. GBM, glomerular basement membrane.

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