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C. Scott Collins

and Christopher M. Wittich

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date: 27 January 2021

Genetic factors play a role in the development of many human diseases. Genetic determinants include chromosome abnormalities, single gene defects, mitochondrial mutations, and multifactorial factors. This chapter has three goals: review the application of genetic concepts to clinical practice, describe features of common genetic disorders that would be useful in providing primary care to patients with genetic disorders, and explain when screening is indicated for family members of patients with genetic diseases.

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