The genetics of ACTH resistance syndromes

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 20, Issue 4, 2006, Pages 547-560

  Metherell, Louise A ^b   Chan, Li F ^b   Clark, Adrian J L ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b NONE

Author keywords

ACTH resistance; familial glucocorticoid deficiency; melanocortin 2 receptor; melanocortin 2 receptor accessory protein

Indexed keywords

CORTICOTROPIN; HYDROCORTISONE; MELANOCORTIN 2 RECEPTOR;

ADRENAL INSUFFICIENCY; CHROMOSOME 8; CLINICAL ASSESSMENT; CLINICAL FEATURE; CORTICOTROPIN RESISTANCE SYNDROME; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE LOCUS; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOME ANALYSIS; HORMONE ACTION; HORMONE DEFICIENCY; HORMONE DETERMINATION; HORMONE RESISTANCE; HORMONE SUBSTITUTION; HUMAN; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW; RISK ASSESSMENT; RISK FACTOR; SIGNAL TRANSDUCTION; X CHROMOSOME LINKAGE;

ADRENAL INSUFFICIENCY; ADRENOCORTICOTROPIC HORMONE; DRUG RESISTANCE; GLUCOCORTICOIDS; HORMONE REPLACEMENT THERAPY; HUMANS; MEMBRANE PROTEINS; MUTATION; NUCLEAR PORE COMPLEX PROTEINS; RECEPTOR, MELANOCORTIN, TYPE 2; STEROID METABOLISM, INBORN ERRORS; SYNDROME;

EID: 33845210390     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2006.09.002     Document Type: Review

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