A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency

European Journal of Endocrinology

Volumn 157, Issue 2, 2007, Pages 233-238

  Reuter, Anne L ^c   Goji, Katsumi ^a   Bingham, Nathan C ^c   Matsuo, Masafumi ^b   Parker, Keith L ^c  

^a KOBE CHILDREN S HOSPITAL   (Japan)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; STEROIDOGENIC FACTOR 1;

ADRENAL FUNCTION; ADRENAL INSUFFICIENCY; ADULT; ARTICLE; CASE REPORT; CLITORIS; DNA BINDING; DNA POLYMORPHISM; EPIDIDYMIS; GENE MUTATION; GENETIC ANALYSIS; GONADAL DYSGENESIS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; JAPANESE; KARYOTYPE; MALE; MUELLERIAN DUCT; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEX DIFFERENTIATION; SEX TRANSFORMATION; TESTICULAR FEMINIZATION; TESTIS ATROPHY; TESTIS DEVELOPMENT; VAS DEFERENS; WILD TYPE;

ADRENAL INSUFFICIENCY; ADULT; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GONADAL DYSGENESIS, 46,XY; HOMEODOMAIN PROTEINS; HUMANS; LUCIFERASES; MUTATION; PLASMIDS; POLYMORPHISM, GENETIC; RECEPTORS, CYTOPLASMIC AND NUCLEAR; THYROID HORMONE RECEPTORS ALPHA; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 34547755733     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/EJE-07-0113     Document Type: Article

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