Frasier syndrome comes full circle: genetic studies performed in an original patient.
case_report · Level V
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Abstract
Frasier syndrome is a relatively rare disorder associated with XY gonadal dysgenesis, gonadoblastoma, and kidney failure. In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964.
Medical subject headings
- Denys-Drash Syndrome
- Genes, Wilms Tumor
- Gonadal Dysgenesis, 46,XY
- Point Mutation