A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency

Hormone Research

Volumn 70, Issue 3, 2008, Pages 145-149

  Riedl, Stefan ^a,d   Nguyen, Huy Hoang ^b   Clausmeyer, Susanne ^c   Schulze, Egbert ^c   Waldhauser, Franz ^a   Bernhardt, Rita ^b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b SAARLAND UNIVERSITY   (Germany)

^c Laboratory for Molecular Genetics   (Germany)

^d ST ANNA CHILDREN S HOSPITAL   (Austria)

Author keywords

11 hydroxylase; Congenital adrenal hyperplasia; CYP11B1 gene; Hypocortisolism

Indexed keywords

ANTIBIOTIC AGENT; CORTODOXONE; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE;

ANAMNESIS; ARTICLE; BACTERIAL INFECTION; BLOOD PRESSURE; CASE REPORT; CELL STRAIN HCT116; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CRYPTORCHISM; CYP11B1 GENE; CYTOMEGALOVIRUS INFECTION; DISEASE SEVERITY; ECHOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC VARIABILITY; GENITAL SYSTEM; HETEROZYGOSITY; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; KARYOTYPE 46,XX; MALE; MIXED INFECTION; MUTATOR GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEPSIS; TURKEY (REPUBLIC); UROGENITAL TRACT RADIOGRAPHY; VIRILIZATION; VIRUS INFECTION;

ADRENAL HYPERPLASIA, CONGENITAL; CORTODOXONE; DNA; FEMALE; GONADAL DYSGENESIS, 46,XX; HCT116 CELLS; HUMANS; INFANT; MUTAGENESIS, SITE-DIRECTED; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; STEROID 11-BETA-HYDROXYLASE; TRANSFECTION; VIRILISM;

EID: 47949132037     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000137659     Document Type: Article

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