TY - CHAP M1 - Book, Section TI - Genes in Individuals A1 - Pyeritz, Reed E. A2 - Papadakis, Maxine A. A2 - McPhee, Stephen J. A2 - Rabow, Michael W. A2 - McQuaid, Kenneth R. PY - 2023 T2 - Current Medical Diagnosis & Treatment 2023 AB - For some quantitative traits such as adult height or serum glucose concentration in normal individuals, it is difficult to distinguish the contributions of individual genes; this is because in general, phenotypes are the products of multiple genes acting in concert, and obviously influenced by the environment and chance. However, if one of the genes in the system is aberrant, a major departure from the “normal” or expected phenotype might arise. Whether the aberrant phenotype is serious (ie, a disease) or even recognized depends on the nature of the defective gene product and how resilient the system is to disruption. The latter point emphasizes the importance of homeostasis in both physiology and development—many pathogenic variants go unrecognized because the system can cope, even though tolerances for further perturbation might be narrowed. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/14 UR - accessmedicine.mhmedical.com/content.aspx?aid=1193140191 ER -