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| phenotypic heterogeneity ： ウィキペディア英語版 |
phenotypic heterogeneity
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).〔Thompson and Thompson, Medical genetics〕
== References ==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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