A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age

Journal of Pediatric Endocrinology and Metabolism

Volumn 20, Issue 9, 2007, Pages 1039-1043

  Mericq, Verónica ^a,b   Ciaccio, Marta ^a,b   Marino, Roxana ^a,b   Lamoglia, Juan Javier ^a,b   Viterbo, Gisella ^a,b   Rivarola, Marco A ^a,b   Belgorosky, Alicia ^a,b  

^a UNIVERSITY OF CHILE   (Chile)

^b HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

Author keywords

Adrenal hypoplasia congenita; DAXI; Neonatal adrenal insufficiency; NROB1; X linkage

Indexed keywords

DNA; FLUDROCORTISONE; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1; NUCLEOTIDE; SODIUM CHLORIDE;

ADRENAL INSUFFICIENCY; ARTICLE; CASE REPORT; CODON; CONGENITAL ADRENAL HYPERPLASIA; DNA EXTRACTION; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPOPLASIA; LYMPHOCYTE; MALE; MOTHER; NEWBORN DISEASE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SIBLING; STOP CODON; SUDDEN DEATH;

EID: 35649016737     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2007.20.9.1039     Document Type: Article

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