A Missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 3, 2012, Pages

  Idkowiak, Jan ^a   Randell, Tabitha ^b   Dhir, Vivek ^a   Patel, Pushpa ^a   Shackleton, Cedric H L ^a   Taylor, Norman F ^c   Krone, Nils ^a   Arlt, Wiebke ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 17; CYTOCHROME P450 17A1; CYTOCHROME P450 5A; GLUCOCORTICOID; MINERALOCORTICOID; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; UNCLASSIFIED DRUG;

17,20 LYASE DEFICIENCY; ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CONSANGUINITY; CONTROLLED STUDY; CYB5A GENE; CYP17A1 GENE; CYTOCHROME B5 GENE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XY; MALE; METABOLOMICS; METHEMOGLOBINEMIA; MISSENSE MUTATION; NEWBORN; POR GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENTIATION DISORDER; SIBLING;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; CHILD; CHILD, PRESCHOOL; CYTOCHROMES B5; HUMANS; INFANT; INFANT, NEWBORN; MUTATION, MISSENSE; STEROID 17-ALPHA-HYDROXYLASE;

EID: 84858051763     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2413     Document Type: Article

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