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Updated: Aug 17, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Frasier syndrome comes full circle: genetic studies performed in an original patient
Nicholas J Wang1, Hae-Ri Song, N Carolyn Schanen
1Department of Human Genetics, The David Geffen school of Medicine at the University of California, Los Angeles, California, USA.
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.
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