title: Genotypes and phenotypes.
authors.forename: W A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006031:Glycosylation; D006801:Humans; D009154:Mutation; D010641:Phenotype