Article
Fine mapping of the nail-patella syndrome locus at 9q34.
American journal of human genetics - 1 Jan 1997
McIntosh I, Clough M V, Schäffer A A, Puffenberger E G, Horton V K, Peters K, Abbott M H, Roig C M, Cutone S, Ozelius L, Kwiatkowski D J, Pyeritz R E, Brown L J, Pauli R M, McCormick M K, Francomano C A
Abstract excerpt
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...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Female
- Genetic Linkage
- Genotype
- Humans
- Male
- Microsatellite Repeats
- Nail-Patella Syndrome
- Pedigree