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.
Department of Human Genetics, The David Geffen school of Medicine at the University of California, Los Angeles, California, USA.
Nicholas J
NJ
Wang
Hae-Ri
HR
Song
N Carolyn
NC
Schanen
Neil L
NL
Litman
S Douglas
SD
Frasier
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