Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Analysis of the United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE) cohort

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 2, 2013, Pages

  Krone, Nils ^a   Rose, Ian T ^a   Willis, Debbie S ^d   Hodson, James ^c   Wild, Sarah H ^b   Doherty, Emma J ^f   Hahner, Stefanie ^g   Parajes, Silvia ^a   Stimson, Roland H ^e   Han, Thang S ^h   Carroll, Paul V ^f   Conway, Gerry S ^h   Walker, Brian R ^e   MacDonald, Fiona ⁱ   Ross, Richard J ^j   Arlt, Wiebke ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b Society for Endocrinology   (United Kingdom)

^c QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^g UNIVERSITY OF WÜRZBURG   (Germany)

^h UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

ⁱ BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^j UNIVERSITY OF SHEFFIELD   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ANDROSTENEDIONE; DEXAMETHASONE; FLUDROCORTISONE; GLUCOCORTICOID; GLUCOSE; HYDROCORTISONE; HYDROXYPROGESTERONE; LIPID; PREDNISOLONE; TESTOSTERONE;

21 HYDROXYLASE GENE; ADULT; ANDROGEN BLOOD LEVEL; ARTICLE; BLOOD PRESSURE; COHORT ANALYSIS; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE BLOOD LEVEL; HEALTH STATUS; HOMEOSTASIS MODEL ASSESSMENT OF INSULIN RESISTANCE; HUMAN; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MENARCHE; METABOLIC PARAMETERS; MISSENSE MUTATION; MULTICENTER STUDY (TOPIC); MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPLICING DEFECT; STEROID 21 MONOOXYGENASE DEFICIENCY; TREATMENT RESPONSE;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AGED; ALLELES; COHORT STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GREAT BRITAIN; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; STEROID 21-HYDROXYLASE;

EID: 84873622681     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3343     Document Type: Article

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