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).

单词	Phenotypic heterogeneity
释义	Phenotypic heterogeneity 英语百科 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).
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