A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

European Journal of Pediatrics

Volumn 168, Issue 3, 2009, Pages 367-369

  Ozer, Esra Arun ^a,b   Kaya, Aysun ^a   Yildirimer, Munevver ^a   Guler, Ozlem ^a   Can, Sule ^a   Aydinlioglu, Halil ^a  

^a Izmir Tepecik Training and Research Hospital   (Turkey)

^b 2041 Sok No 113/17 Mavisehir ^*  (Turkey)

Author keywords

Adrenal hypoplasia congenita; Children; DAX1; NR0B1

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1;

ADRENAL CORTEX DISEASE; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HEMIZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; RESPIRATORY DISTRESS; TACHYPNEA; THYROID FUNCTION TEST; TURKEY (REPUBLIC); X CHROMOSOME LINKED DISORDER;

ADRENAL INSUFFICIENCY; BASE SEQUENCE; CODON, TERMINATOR; DNA-BINDING PROTEINS; FLUDROCORTISONE; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HORMONES; HUMANS; HYDROCORTISONE; HYPOGONADISM; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEQUENCE DELETION;

EID: 59449086088     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0778-y     Document Type: Article

References (10)

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