Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 10, 2009, Pages 3865-3871

  Metherell, Louise A ^a,j   Naville, Danielle ^b   Halaby, George ^c   Begeot, Martine ^b   Huebner, Angela ^d   Nürnberg, Gudrun ^e   Nürnberg, Peter ^e   Green, Jane ^f   Tomlinson, Jeremy W ⁱ   Krone, Nils P ⁱ   Lin, Lin ^h   Racine, Michael ^g   Berney, Dan M ^a   Achermann, John C ^h   Arlt, Wiebke ⁱ   Clark, Adrian J L ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b INSERM   (France)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f Faculty of Medicine   (Germany)

^g HELEN DEVOS CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^j Clinical Research Center   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CORTICOTROPIN RECEPTOR; CORTISONE ACETATE; HYDROCORTISONE; MELANOCORTIN 2 RECEPTOR; MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; RECEPTOR PROTEIN; STEROIDOGENIC ACUTE REGULATORY PROTEIN; TETRACOSACTIDE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORTICOTROPIN DEFICIENCY; DIFFERENTIAL DIAGNOSIS; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; GLUCOCORTICOSTEROID DEFICIENCY; HOMOZYGOSITY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 70349921311     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0467     Document Type: Article

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