Should syndromes be defined phenotypically or molecularly? Resolution of the dilemma.
Cohen
M M
MM
MacLean
R E
RE
D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D009626:Terminology as Topic