Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue 9, 2006, Pages 1167-1170

  Hiroki, Matsuura ^a   Masaaki, Shiohara ^a   Yamano, Mizuki ^a   Kurata, Kenji ^a   Arai, Fumi ^a   Koike, Kenichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ACTH; Compound heterozygous mutations; Familial glucocorticoid deficiency type 1; MC2R

Indexed keywords

CHLORIDE; CORTICOTROPIN; GLUCOSE; HYDROCORTISONE; HYDROXYPROGESTERONE; MELANOCORTIN 2 RECEPTOR; OXYGEN; POTASSIUM; SODIUM;

ARTICLE; CASE REPORT; CHLORIDE BLOOD LEVEL; CLINICAL FEATURE; CORTICOTROPIN BLOOD LEVEL; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GLUCOCORTICOSTEROID DEFICIENCY; HETEROZYGOSITY; HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPOGLYCEMIA; NEWBORN HYPOXIA; POTASSIUM BLOOD LEVEL; PRESCHOOL CHILD; PROGESTERONE BLOOD LEVEL; SKIN PIGMENTATION; SODIUM BLOOD LEVEL; TALL STATURE;

ALLELES; CHILD, PRESCHOOL; CLONING, MOLECULAR; FEMALE; GLUCOCORTICOIDS; GROWTH; HETEROZYGOTE; HORMONE REPLACEMENT THERAPY; HUMANS; MUTATION; PIGMENTATION DISORDERS; RECEPTOR, MELANOCORTIN, TYPE 2; STEROID METABOLISM, INBORN ERRORS;

EID: 33750365137     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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