An update on the molecular genetics of congenital adrenal hyperplasia: Diagnostic and therapeutic aspects

Journal of Pediatric Endocrinology and Metabolism

Volumn 11, Issue 5, 1998, Pages 581-589

  Wedell, Anna ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Congenital adrenal hyperplasia; CYP21; Genetic diagnosis; Genotype; Mutations; Phenotype

Indexed keywords

GLUCOCORTICOID; HYDROXYPROGESTERONE; MINERALOCORTICOID; STEROID 21 MONOOXYGENASE;

ADRENALECTOMY; CONGENITAL ADRENAL HYPERPLASIA; DISEASE SEVERITY; GENE MUTATION; GENOTYPE; HUMAN; MOLECULAR GENETICS; PHENOTYPE; PRENATAL DIAGNOSIS; PSEUDOGENE; REVIEW; SCANDINAVIA; SWEDEN;

EID: 0031788479     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.1998.11.5.581     Document Type: Review

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