Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 8, 2006, Pages 2821-2826

  Al Kandari, Hessa ^a,d   Katsumata, Noriyuki ^b   Alexander, Suzan ^c   Rasoul, Majedah Abdul ^a  

^a FARWANIYA HOSPITAL   (Kuwait)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c AL SABAH HOSPITAL   (Kuwait)

^d KING FAHAD MEDICAL CITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CORTICOTROPIN; CYTOCHROME P450; CYTOCHROME P450 11A1 ENZYME; UNCLASSIFIED DRUG;

ADRENAL INSUFFICIENCY; AMINO ACID SUBSTITUTION; CASE REPORT; CONFERENCE PAPER; CORPUS CALLOSUM AGENESIS; ENZYME ACTIVITY; FEMALE; HUMAN; IN VITRO STUDY; IN VIVO STUDY; INFANT; KARYOTYPE 46,XY; PHENOTYPE; POINT MUTATION; PREGNANCY; PRIORITY JOURNAL; SEX TRANSFORMATION;

EID: 33747651019     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2230     Document Type: Conference Paper

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