Frasier Syndrome Comes Full Circle: Genetic Studies Performed in an Original Patient

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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Bibliographische Detailangaben
Veröffentlicht in:	The Journal of pediatrics 2005-06, Vol.146 (6), p.843-844
Hauptverfasser:	Wang, Nicholas J., Song, Hae-Ri, Schanen, N. Carolyn, Litman, Neil L., Frasier, S. Douglas
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenine Biological and medical sciences Denys-Drash Syndrome - genetics DNA Mutational Analysis Female General aspects Genes, Wilms Tumor Gonadal Dysgenesis, 46,XY - genetics Guanine Humans Introns Medical sciences Middle Aged Point Mutation Polymerase Chain Reaction
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2005.02.029