Nail-Patella syndrome (NPS) or onychoosteodysplasia is an au-tosomal dominant disorder characterized by skeletal abnormalities such as nail dysplasia and hypoplastic patellae, renal disease and open-angle glaucoma (OA...Nail-Patella syndrome (NPS) or onychoosteodysplasia is an au-tosomal dominant disorder characterized by skeletal abnormalities such as nail dysplasia and hypoplastic patellae, renal disease and open-angle glaucoma (OAG). Recently several mutations in the LMX 1B gene, which encodes for a homeodomain protein, have been associated with NPS. We have screened展开更多
文摘Nail-Patella syndrome (NPS) or onychoosteodysplasia is an au-tosomal dominant disorder characterized by skeletal abnormalities such as nail dysplasia and hypoplastic patellae, renal disease and open-angle glaucoma (OAG). Recently several mutations in the LMX 1B gene, which encodes for a homeodomain protein, have been associated with NPS. We have screened
