Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

European Journal of Endocrinology

Volumn 167, Issue 1, 2012, Pages 119-124

  Ledig, Susanne ^a   Hiort, Olaf ^b   Wünsch, Lutz ^b   Wieacker, Peter ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE; OCTAMER TRANSCRIPTION FACTOR 4; TESTOSTERONE; TRANSCRIPTION FACTOR AP 2;

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 11Q24.2; CHROMOSOME 19P; CHROMOSOME 19P13.3; CHROMOSOME 9P; CHROMOSOME 9P24.3; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DMRT1 GENE; EXON; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HISTOPATHOLOGY; HUMAN; INFANT; LAPAROSCOPY; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEX DIFFERENTIATION DISORDER;

EXONS; FEMALE; GONADAL DYSGENESIS, 46,XY; HAPLOINSUFFICIENCY; HUMANS; INFANT, NEWBORN; OVOTESTICULAR DISORDERS OF SEX DEVELOPMENT; TRANSCRIPTION FACTORS;

EID: 84862748399     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0136     Document Type: Article

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