Adrenal function in Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2732-2738

  Bianconi, Simona E ^a,b   Conley, Sandra K ^a   Keil, Meg F ^a   Sinaii, Ninet ^c   Rother, Kristina I ^b,d   Porter, Forbes D ^a,b   Stratakis, Constantine A ^a,b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

Adrenal gland; Adrenocortical insufficiency; Adrenocorticotropin (ACTH); Corticotropin releasing hormone (CRH); Cortisol; Inborn error of cholesterol synthesis; Pituitary gland; Smith Lemli Opitz syndrome (SLOS)

Indexed keywords

ALDOSTERONE; CORTICOTROPIN; GLUCOCORTICOID; HYDROCORTISONE;

ADOLESCENT; ADRENAL CORTEX INSUFFICIENCY; ADRENAL FUNCTION; AREA UNDER THE CURVE; ARTICLE; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DHCR7 GENE; DISEASE SEVERITY; FEMALE; HORMONAL REGULATION; HUMAN; HYDROCORTISONE RELEASE; INFANT; MALE; MOLECULAR PATHOLOGY; MUTATOR GENE; PATIENT ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SMITH LEMLI OPITZ SYNDROME;

ADRENAL INSUFFICIENCY; ADRENOCORTICOTROPIC HORMONE; ALDOSTERONE; ANIMALS; AREA UNDER CURVE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; COHORT STUDIES; FEMALE; HUMANS; HYDROCORTISONE; INFANT; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; REFERENCE VALUES; SEVERITY OF ILLNESS INDEX; SHEEP; SMITH-LEMLI-OPITZ SYNDROME;

OVIS;

EID: 80054942467     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34271     Document Type: Article

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