Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination - Lim, Han N.; Berkovitz, Gary D.; Hughes, Ieuan A.; Hawkins, J. Ross (Human genetics, 2000)
Keywords: Biological and medical sciences; Conformation; Disorders of Sex Development; DNA-Binding Proteins - genetics; DNA-Binding Proteins - physiology; Female; Fundamental and applied biological sciences. Psychology; Genetic testing; Genetics of eukaryotes. Biological and molecular evolution; Gonadal dysgenesis; Gonadal Dysgenesis, 46,XY - genetics; Hermaphroditism; Heterozygosity; High Mobility Group Proteins - genetics; High Mobility Group Proteins - physiology; Human; Humans; Karyotyping; Male; Males; Mutation; Nuclear Proteins; Phenotype; Polymorphism; Population genetics, reproduction patterns; Proteins; Sex determination; Sex reversal; Sex-Determining Region Y Protein; Single-nucleotide polymorphism; Sox3 protein; Sox9 protein; SOXB1 Transcription Factors; Testis - embryology; Testis - enzymology; Transcription Factors; United Kingdom--UK; Chromosomal aberration; Endocrinopathy; Human; Embryonic development; Dysgenesia; 46XX male syndrome; 46XY female syndrome; Sex chromosome; Sexual differentiation disorder; Cell differentiation; Testicle; Single strand conformation polymorphism; Heteroduplex; Gonad; Malformation; Mutation; Polymorphism