A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene

European Journal of Pediatrics

Volumn 168, Issue 7, 2009, Pages 877-880

  Ko, Jung Min ^a   Cheon, Chong Kun ^a   Kim, Gu Hwan ^a   Yoo, Han Wook ^a  

^a University of Ulsan   (South Korea)

Author keywords

Ambiguous genitalia; Antley Bixler syndrome; Congenital adrenal hyperplasia; Cytochrome P450 oxidoreductase; POR gene

Indexed keywords

CORTICOTROPIN; CYTOCHROME P450; HYDROCORTISONE; HYDROXYPROGESTERONE; OXIDOREDUCTASE; PRASTERONE SULFATE;

ANTLEY BIXLER SYNDROME; ARTICLE; BRACHYCEPHALY; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; EXOPHTHALMOS; FEMALE; FRONTAL BOSSING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HYPOPLASIA; INFANT; KOREA; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; STEROID 21 MONOOXYGENASE DEFICIENCY; STIMULATION;

ABNORMALITIES, MULTIPLE; ANTLEY-BIXLER SYNDROME PHENOTYPE; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; GENITALIA; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; KOREA; MUTATION; OXIDOREDUCTASES; PHENOTYPE; PROGESTERONE; STEROID 21-HYDROXYLASE;

EID: 67349260737     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0849-0     Document Type: Article

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