One gene, many phenotypes

الملخص EN

Phenotype descriptions are valuable information right at the interface of medicine and biology.

With the rapid advancement in the fi eld of genetics, thousands of genes involved in human diseases have been cloned.

It was expected that knowledge of mutations would lead to consistent genotype-phenotype correlations.

The understanding of mechanisms underlying genotype-phenotype discrepancies is important, as it will move clinical genetics towards predictive medicine, allowing better selection of therapeutic strategies and individualized counseling of persons affected with genetic disorders.