X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 10, 2009, Pages 4086-4093

  Skinningsrud, Beate ^a,b   Husebye, Eystein S ^c,d   Gilfillan, Gregor D ^a   Frengen, Eirik ^b   Erichsen, Aage ^a   Gervin, Kristina ^a,b   Ormerod, Eli ^a   Egeland, Thore ^b   Undlien, Dag E ^a,b  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR RECEPTOR DAX 1; STEROIDOGENIC FACTOR 1;

ADOLESCENT; ADRENAL DISEASE; ARTICLE; BINDING SITE; CASE REPORT; CHILD; CHROMOSOME INVERSION; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; FEMALE; GENE; GENE DISRUPTION; GENE EXPRESSION REGULATION; GENE LOCATION; GENE MUTATION; GENE SILENCING; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGONADOTROPIC HYPOGONADISM; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; NR0B1 GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; TRANSCRIPTION INITIATION; TRANSCRIPTION REGULATION; X CHROMOSOME; X CHROMOSOME LINKED DISORDER; X LINKED CONGENITAL ADRENAL HYPOPLASIA;

MURINAE;

EID: 70349902762     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0923     Document Type: Article

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