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Egypt. J. Med. Hum. Genet. Vol. 10, No. 1, May, 2009
One gene, many phenotypes
Rabah M. Shawky
Pediatrics Department, Ain Shams University
Phenotype descriptions are valuable information right at the interface of medicine and biology. With the rapid advancement in the field 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.
Copyright: All rights reserved for The Egyptian Journal of Medical Human Genetics