Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene

Annals of Clinical Biochemistry

Volumn 45, Issue 6, 2008, Pages 606-609

  Wheeler, Benjamin John ^a   George, P M ^b   MacKenzie, K ^a   Hunt, P ^a   Potter, H C ^b   Florkowski, C M ^b  

^a CHRISTCHURCH HOSPITAL   (New Zealand)

^b CANTERBURY HEALTH LABORATORIES   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOHYPOPHYSIS; ADRENAL CORTEX; ADRENAL GLAND MALFORMATION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; DAX 1 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GONAD; HUMAN; HYPOGLYCEMIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS; INFANT; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SALT LOSING NEPHRITIS;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; CHROMOSOMES, HUMAN, X; DNA-BINDING PROTEINS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POINT MUTATION; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEQUENCE DELETION;

EID: 55949117595     PISSN: 00045632     EISSN: 00045632     Source Type: Journal    
DOI: 10.1258/acb.2008.008038     Document Type: Article

References (10)

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