Ontology highlight
ABSTRACT:
SUBMITTER: McIntosh I
PROVIDER: S-EPMC1712569 | biostudies-other | 1997 Jan
REPOSITORIES: biostudies-other
McIntosh I I Clough M V MV Schäffer A A AA Puffenberger E G EG Horton V K VK Peters K K Abbott M H MH Roig C M CM Cutone S S Ozelius L L Kwiatkowski D J DJ Pyeritz R E RE Brown L J LJ Pauli R M RM McCormick M K MK Francomano C A CA
American journal of human genetics 19970101 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 linka ...[more]