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Download REVIEW ARTICLE One gene, many phenotypes
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REVIEW ARTICLE Egypt. J. Med. Hum. Genet. Vol. 10, No. 1, May, 2009 One gene, many phenotypes Rabah M. Shawky Pediatrics Department, Ain Shams University ABSTRACT 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
