Frasier syndrome comes full circle: Genetic studies performed in an original patient

Nicholas J. Wang, Hae Ri Song, N. Carolyn Schanen, Neil L. Litman, S. Douglas Frasier

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)843-844
Number of pages2
JournalJournal of Pediatrics
Volume146
Issue number6
DOIs
StatePublished - Jun 1 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Wang, N. J., Song, H. R., Schanen, N. C., Litman, N. L., & Frasier, S. D. (2005). Frasier syndrome comes full circle: Genetic studies performed in an original patient. Journal of Pediatrics, 146(6), 843-844. https://doi.org/10.1016/j.jpeds.2005.02.029