Fine mapping of the nail-patella syndrome locus at 9q34.

  title={Fine mapping of the nail-patella syndrome locus at 9q34.},
  author={Iain Mcintosh and Mark V. Clough and Alejandro A. Sch{\"a}ffer and Erik G Puffenberger and V K Horton and Katherine Peters and Margaret H Abbott and Carmen M Roig and S Cutone and Laurie Ozelius and David J Kwiatkowski and Reed Edwin Pyeritz and Louise Jennifer Brown and Richard M Pauli and Mary Kay McCormick and Clair A. Francomano},
  journal={American journal of human genetics},
  volume={60 1},
Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail-patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. As a first step toward isolating the NPS gene, we present linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons. Two-point… CONTINUE READING
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