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 Citations (Scopus)

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 2005
Externally publishedYes

Fingerprint

Frasier Syndrome
Gonadoblastoma
Wilms' Tumor Genes
Gonadal Dysgenesis
Wilms Tumor
Renal Insufficiency
Mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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

Frasier syndrome comes full circle : Genetic studies performed in an original patient. / Wang, Nicholas J.; Song, Hae Ri; Schanen, N. Carolyn; Litman, Neil L.; Frasier, S. Douglas.

In: Journal of Pediatrics, Vol. 146, No. 6, 06.2005, p. 843-844.

Research output: Contribution to journalArticle

Wang, NJ, Song, HR, Schanen, NC, Litman, NL & Frasier, SD 2005, 'Frasier syndrome comes full circle: Genetic studies performed in an original patient', Journal of Pediatrics, vol. 146, no. 6, pp. 843-844. https://doi.org/10.1016/j.jpeds.2005.02.029
Wang, Nicholas J. ; Song, Hae Ri ; Schanen, N. Carolyn ; Litman, Neil L. ; Frasier, S. Douglas. / Frasier syndrome comes full circle : Genetic studies performed in an original patient. In: Journal of Pediatrics. 2005 ; Vol. 146, No. 6. pp. 843-844.
@article{37bfcd1860314d6cbb60ed145d94cd9b,
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 = "6",
doi = "10.1016/j.jpeds.2005.02.029",
language = "English (US)",
volume = "146",
pages = "843--844",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "6",

}

TY - JOUR

T1 - Frasier syndrome comes full circle

T2 - Genetic studies performed in an original patient

AU - Wang, Nicholas J.

AU - Song, Hae Ri

AU - Schanen, N. Carolyn

AU - Litman, Neil L.

AU - Frasier, S. Douglas

PY - 2005/6

Y1 - 2005/6

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.

UR - http://www.scopus.com/inward/record.url?scp=20544462369&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20544462369&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2005.02.029

DO - 10.1016/j.jpeds.2005.02.029

M3 - Article

C2 - 15973330

AN - SCOPUS:20544462369

VL - 146

SP - 843

EP - 844

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 6

ER -