A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita

Genetics and Molecular Research

Volumn 6, Issue 2, 2007, Pages 277-283

  Calliari, L E P ^a   Longui, C A ^a   Rocha, M N ^a   Faria, C D C ^a   Kochi, C ^a   Melo, M R ^a   Melo, M B ^a   Monte, O ^a  

^a FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

Author keywords

Adrenal insufficiency; DAX1; Point mutation

Indexed keywords

ALDOSTERONE; CORTICOTROPIN; FLUDROCORTISONE; GLUCOCORTICOID; HYDROCORTISONE; HYDROCORTISONE ACETATE; MINERALOCORTICOID; NUCLEAR RECEPTOR DAX 1; RENIN;

ADRENAL GLAND MALFORMATION; ADRENAL INSUFFICIENCY; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMBINATION CHEMOTHERAPY; CONGENITAL ADRENAL HYPOPLASIA; GENE MUTATION; GENE SEQUENCE; HORMONE BLOOD LEVEL; HOSPITAL ADMISSION; HUMAN; HYPERPIGMENTATION; INFANT; LABORATORY TEST; LIGAND BINDING; ONSET AGE; PHENOTYPE; PHYSICAL EXAMINATION; POINT MUTATION; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SIBLING; STOP CODON; SYMPTOM; TREATMENT OUTCOME;

EID: 34548261459     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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