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

doi:10.1038/sj.ejhg.5201446

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

European journal of human genetics : EJHG - 1 Aug 2005

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

Abstract excerpt

Nail-patella syndrome (NPS) is characterized by developmental defects of dorsal limb structures, nephropathy, and glaucoma and is caused by heterozygous mutations in the LIM homeodomain transcription factor LMX1B. In order to identify possible genotype-phenotype correlations, we performed LMX1B mutation analysis and comprehensive investigations of limb, renal, ocular, and audiological characteristics in 106...

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PMID: 15928687
DOI: 10.1038/sj.ejhg.5201446

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