Article
Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2013
McCormick Elizabeth M, Hopkins Elizabeth, Conway Laura, Catalano Sarah, Hossain Jobayer, Sol-Church Katia, Stabley Deborah L, Gripp Karen W
Abstract excerpt
PURPOSE: Costello syndrome, a rare genetic disorder with multisystemic involvement, is caused by germline HRAS mutations. Because several different missense mutations have been reported, a severity scoring system was developed to assess a possible genotype-phenotype correlation. METHODS: Records of 78 individuals with Costello syndrome were scored in early childhood, childhood, and young adulthood by a reviewer...
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