Genetics of congenital adrenal hyperplasia

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 23, Issue 2, 2009, Pages 181-192

  Krone, Nils ^a   Arlt, Wiebke ^a  

^a Institute of Biomedical Research   (United Kingdom)

Author keywords

CAH; congenital adrenal hyperplasia; CYP11B1; CYP17A1; CYP21A2; genetic analysis; HSD3B2; POR

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CYTOCHROME P450 REDUCTASE; DNA; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE; STEROID 17ALPHA MONOOXYGENASE; STEROID 21 MONOOXYGENASE;

AMBIGUITY; AUTOSOMAL RECESSIVE DISORDER; CHEMICAL ANALYSIS; CONGENITAL ADRENAL HYPERPLASIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE CONVERSION; GENE DELETION; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; REVIEW; SKELETON MALFORMATION; STEROIDOGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; ANIMALS; GENETIC SCREENING; HUMANS; MUTATION; NADPH-FERRIHEMOPROTEIN REDUCTASE; PROGESTERONE REDUCTASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; STEROID 21-HYDROXYLASE;

EID: 66149160385     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2008.10.014     Document Type: Review

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