Abstract
The field of genetics continues to evolve at a rapid pace. The completion of the Human Genome Project coupled with advancing scientific techniques has led to the explosion of genetic information and testing capabilities ranging from rare genetic conditions to common and sometimes preventable conditions. This chapter reviews a variety of genetic conditions categorized by primary mode of inheritance and is further subcategorized by disease process. For each disorder, the chromosome, gene location, inheritance pattern, incidence, clinical phenotype, laboratory findings, and treatment options are reviewed, providing a general overview of a wide range of genetic conditions and various inheritance patterns extending across multiple subspecialties.
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Other Genetic Disorders
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Mitochondrial Disorders
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Volk, A.K. et al. (2016). Human Genetic Disorders. In: Cheng, L., Bostwick, D. (eds) Essentials of Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-23380-2_13
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DOI: https://doi.org/10.1007/978-3-319-23380-2_13
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-23379-6
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