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.
Wang
Nicholas J
NJ
Department of Human Genetics, The David Geffen school of Medicine at the University of California, Los Angeles, California, USA.
Song
Hae-Ri
HR
Schanen
N Carolyn
NC
Litman
Neil L
NL
Frasier
S Douglas
SD
D000225:Adenine; D004252:DNA Mutational Analysis; D030321:Denys-Drash Syndrome / Q000235:genetics*; D005260:Female; D016162:Genes, Wilms Tumor; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006147:Guanine; D006801:Humans; D007438:Introns; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D006147:Guanine; D000225:Adenine