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Phenotypic heterogeneity describes different mutations in the same gene that can sometimes give rise to strikingly different phenotypes.
E.g., certain loss-of-function mutations in the RET gene, which encodes a receptor tyrosine kinase, can cause dominantly inherited failure of development of colonic ganglia, leading to defective colonic motility and severe chronic constipation (Hirschsprung disease).
References
- Thompson and Thompson, Medical genetics
- Ackermann, Martin (August 2015). "A functional perspective on phenotypic heterogeneity in microorganisms". Nature Reviews Microbiology. 13 (8): 497–508. doi:10.1038/nrmicro3491. ISSN 1740-1534. PMID 26145732. S2CID 29846214.
- Sumner, Edward R.; Avery, Simon V. (February 2002). "Phenotypic heterogeneity: differential stress resistance among individual cells of the yeast Saccharomyces cerevisiae". Microbiology. 148 (Pt 2): 345–351. doi:10.1099/00221287-148-2-345. ISSN 1350-0872. PMID 11832498.