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

doi:10.1016/j.jpeds.2005.02.029

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 journal › Article › peer-review

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 language	English (US)
Pages (from-to)	843-844
Number of pages	2
Journal	Journal of Pediatrics
Volume	146
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2005.02.029
State	Published - Jun 2005
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2005.02.029

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title = "Frasier syndrome comes full circle: Genetic studies performed in an original patient",

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.",

author = "Wang, {Nicholas J.} and Song, {Hae Ri} and Schanen, {N. Carolyn} and Litman, {Neil L.} and Frasier, {S. Douglas}",

year = "2005",

month = jun,

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language = "English (US)",

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journal = "Journal of Pediatrics",

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AU - Wang, Nicholas J.

AU - Song, Hae Ri

AU - Schanen, N. Carolyn

AU - Litman, Neil L.

AU - Frasier, S. Douglas

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N2 - 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.

AB - 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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ER -

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

Abstract

ASJC Scopus subject areas

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