Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other

European Journal of Pediatrics

Volumn 169, Issue 7, 2010, Pages 891-894

  Dumic, Katja ^a   Wilson, Robert ^b   Thanasawat, Pavinee ^b   Grubic, Zorana ^c   Kusec, Vesna ^c   Stingl, Katarina ^c   New, Maria I ^b  

^a Alergologiju I Reumatologiju S Klini kom Imunologijom   (Croatia)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c KBC Zagreb   (Croatia)

Author keywords

11 hydroxylase; Congenital adrenal hyperplasia; Mutation

Indexed keywords

ALDOSTERONE; ANDROSTENEDIONE; CORTODOXONE; DNA; ELECTROLYTE; GESTONORONE; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE; TESTOSTERONE;

ALLELE; ARTICLE; BLOOD SAMPLING; BONE AGE; BORDERLINE HYPERTENSION; CASE REPORT; CHILD; CONCENTRATION (PARAMETERS); CONGENITAL ADRENAL HYPERPLASIA; DIAGNOSTIC PROCEDURE; DIASTOLIC BLOOD PRESSURE; DNA EXTRACTION; ELECTROLYTE BLOOD LEVEL; ENZYME DEFICIENCY; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GROWTH ACCELERATION; HETEROZYGOSITY; HORMONE BLOOD LEVEL; HUMAN; INTRON; MALE; METABOLIC DISORDER; PLASMA RENIN ACTIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOPRECOCIOUS PUBERTY; SPLICING DEFECT; STEROID 11 BETA HYDROXYLASE DEFICIENCY; SYSTOLIC BLOOD PRESSURE;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD, PRESCHOOL; CROATIA; HUMANS; MALE; MUTATION; PEDIGREE; STEROID 11-BETA-HYDROXYLASE;

EID: 77954423689     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1110-1     Document Type: Article

References (17)

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