Publication | Open Access

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

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyNail-patella Syndrome ShowPathologyMolecular GeneticsDisease Gene IdentificationMedicineLmx1b Mutation LocationGenotype–phenotype StudiesClinical Genetics