A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal.
Iida
T
T
Department of Human Genetics, School of International Health, University of Tokyo, Japan.
Nakahori
Y
Y
Komaki
R
R
Mori
E
E
Hayashi
N
N
Tsutsumi
O
O
Taketani
Y
Y
Nakagome
Y
Y
D000328:Adult; D001483:Base Sequence; D012734:Disorders of Sex Development; D005260:Female; D005801:Genes, Homeobox / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome