X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Report on new mutation of the DAX-1 gene in two siblings

Journal of Endocrinological Investigation

Volumn 29, Issue 1, 2006, Pages 41-47

  Calvari, V ^b   Alpigiani, M G ^a   Poggi, E ^a   Podesta, B ^a   Camerino, G ^b   Lorini, Renato ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Adrenal hypoplasia congenital; DAX 1 gene; Hypogonadotropic hypogonadism

Indexed keywords

ALDOSTERONE; CORTISONE ACETATE; FLUDROCORTISONE; GENOMIC DNA; HYDROCORTISONE; LEUCINE; MINERALOCORTICOID; NUCLEAR RECEPTOR DAX 1; TESTOSTERONE;

ADDISON DISEASE; ADRENAL GLAND MALFORMATION; ADRENAL INSUFFICIENCY; ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; CORRELATION ANALYSIS; DIFFERENTIAL DIAGNOSIS; EXON; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPOALDOSTERONISM; HYPOGONADOTROPIC HYPOGONADISM; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS; SIBLING;

EID: 33644828838     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03349175     Document Type: Article

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