A rare case of 46, XX SRY-negative male with a ~74-kb duplication in a region upstream of SOX9

European Journal of Medical Genetics

Volumn 56, Issue 12, 2013, Pages 695-698

  Xiao, Bing ^a,b   Ji, Xing ^a,b   Xing, Ya ^a,b   Chen, Ying wei ^a,b   Tao, Jiong ^a,b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Institute for Pediatric Research   (China)

Author keywords

46, XX male; Disorder of sex development; SOX9; SRY negative

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; DAX1 GENE; ENHANCER REGION; EXON; GENE; GENE AMPLIFICATION; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; GONAD DEVELOPMENT; HUMAN; INTRON; KARYOTYPE 46,XX; MALE; MICROARRAY ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RSPO1 GENE; SEX DIFFERENTIATION DISORDER; SOX9 GENE; SRY GENE; TESTIS DEVELOPMENT; VIRILIZATION;

46, XX MALE; DISORDER OF SEX DEVELOPMENT; SOX9; SRY-NEGATIVE;

ADULT; DAX-1 ORPHAN NUCLEAR RECEPTOR; GENE DUPLICATION; GONADAL DYSGENESIS, 46,XX; HUMANS; MALE; SOX9 TRANSCRIPTION FACTOR; THROMBOSPONDINS;

EID: 84888032352     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.10.001     Document Type: Article

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