A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism

American Journal of Medical Genetics

Volumn 135 A, Issue 3, 2005, Pages 292-296

  Balsamo, Antonio ^a,b   Antelli, Alessandra ^a   Baldazzi, Lilia ^b   Baronio, Federico ^a   Lazareva, Dina ^a   Cassio, Alessandra ^a   Cicognani, Alessandro ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Adrenal hypoplasia congenita; DAX1 mutation; Hypogonadotropic hypogonadism

Indexed keywords

ARGININE; CHORIONIC GONADOTROPIN; CORTICOSTEROID; CORTICOTROPIN; DEXAMETHASONE; FLUDROCORTISONE; GLUCOCORTICOID; GONADORELIN; GONADOTROPIN; GROWTH HORMONE; HUMAN MENOPAUSAL GONADOTROPIN; HYDROCORTISONE; LEVODOPA; MINERALOCORTICOID; SODIUM;

ADOLESCENT; ADRENAL GLAND MALFORMATION; ADRENAL INSUFFICIENCY; ARTICLE; BONE AGE; CASE REPORT; CONGENITAL ADRENAL HYPOPLASIA; CONJUNCTIVAL HYPEREMIA; CONJUNCTIVITIS; CORTICOTROPIN BLOOD LEVEL; DAX1 GENE; DEHYDRATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; EPENDYMOMA; EXON; GENE; GENE MUTATION; GONADOTROPIN BLOOD LEVEL; HEADACHE; HUMAN; HYPERADRENOCORTICISM; HYPERTENSION; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; LONGITUDINAL STUDY; MALE; MEDICAL DOCUMENTATION; NAUSEA; PARIETAL LOBE; PERCEPTION DISORDER; PHENOTYPE; PREPUBERTY; PRIORITY JOURNAL; RASH; SYSTOLIC HYPERTENSION; TACHYCARDIA; VOMITING; WEIGHT REDUCTION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADRENAL GLAND DISEASES; AMINO ACID SEQUENCE; BASE SEQUENCE; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FOLLOW-UP STUDIES; GONADOTROPINS; HUMANS; HYPOGONADISM; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEQUENCE DELETION;

EID: 19944376176     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30689     Document Type: Article

References (15)

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