X-linked adrenal hypoplasia congenita: A novel DAX1 missense mutation and challenges for clinical diagnosis in Africa

European Journal of Pediatrics

Volumn 171, Issue 2, 2012, Pages 267-270

  Lumaka, Aimé ^a,b   Mubungu, Gerrye ^b   Nsibu, Celestin ^b   Tady, Bruno Paul ^b   Lukusa, Tshilobo ^a,b   Devriendt, Koenraad ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF KINSHASA   (Congo)

Author keywords

Acute adrenal crisis; DAX1; Developing country; Salt wasting syndrome; X linked disease

Indexed keywords

NUCLEAR RECEPTOR DAX 1;

ADRENAL DISEASE; ADRENAL HYPOPLASIA CONGENITA; AFRICA; ANTIBIOTIC THERAPY; ARTICLE; CASE REPORT; EXON; FAMILY HISTORY; HETEROZYGOTE; HUMAN; HYPERPIGMENTATION; HYPOPLASIA; IMMUNIZATION; INFANT; INHERITANCE; JAUNDICE; MALE; MISSENSE MUTATION; NEWBORN DEATH; NEWBORN INFECTION; PEDIGREE; PHOTOTHERAPY; PRIORITY JOURNAL; SPONTANEOUS ABORTION;

ADRENAL HYPERPLASIA, CONGENITAL; AFRICA; DAX-1 ORPHAN NUCLEAR RECEPTOR; DEMOCRATIC REPUBLIC OF THE CONGO; FATAL OUTCOME; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC MARKERS; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 84857064604     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1523-5     Document Type: Article

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