Phenotype recognition. Clinicians' contributions to molecular genetics.
Medullary cystic disease, Alport's syndrome, and autosomal dominant polycystic kidney disease are inherited renal disorders whose genetic bases are better understood because of careful clinical observation. I explore the relationships among some clinical aspects of each of these conditions, the rapidly advancing field of molecular genetics, and the ethical issues that need to be addressed before gene identification becomes too widely applied as a diagnostic tool.
Gardner
K D
KD
Department of Medicine, University of New Mexico School of Medicine, Albuquerque.
D004992:Ethics, Medical; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D052177:Kidney Diseases, Cystic / Q000235:genetics; D009394:Nephritis, Hereditary / Q000235:genetics; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics