The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including alzheimer disease; cystic fibrosis; lipoprotein lipase DEFICIENCY, FAMILIAL; and polycystic kidney diseases. (Rieger, et al., Glossary of genetics: Classical and Molecular, 5th ed; Segen, dictionary of Modern medicine, 1992)

Symptoms and diagnosis



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