A novel missense mutation in Dax-1 with an unusual presentation of X-linked adrenal hypoplasia congenita

Hormone Research

Volumn 68, Issue 1, 2007, Pages 32-37

  Ahmad, Imran ^a   Paterson, Wendy F ^a   Lin, Lin ^b   Adlard, Peter ^c   Duncan, Philippa ^d   Tolmie, John ^a   Achermann, John C ^b   Donaldson, Malcolm D C ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c STOKE MANDEVILLE HOSPITAL   (United Kingdom)

^d WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

Author keywords

Adrenal hypoplasia congenita, X linked; Adrenal insufficiency; DAX 1; Mineralocorticoid; NR0B1

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1; STEROID;

ADRENAL DISEASE; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; DRUG DOSE INCREASE; GONADOTROPIN BLOOD LEVEL; HUMAN; HYPERTENSION; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SEXUAL DEVELOPMENT; STEROID THERAPY; TESTIS SIZE;

ADRENAL GLANDS; ADRENAL INSUFFICIENCY; ANIMALS; ANTI-INFLAMMATORY AGENTS; CHILD, PRESCHOOL; CORTISONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GENETIC DISEASES, X-LINKED; HUMANS; HYDROCORTISONE; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; TESTIS;

EID: 34249944409     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000099835     Document Type: Article

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