Congenital adrenal hyperplasia: Focus on the molecular basis of 21-hydroxylase deficiency

Expert Reviews in Molecular Medicine

Volumn 9, Issue 11, 2007, Pages 1-23

  Gonçalves, João ^a   Friães, Ana ^a,b   Moura, Luís ^c  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANDROSTENEDIONE; CHOLESTEROL; DEXAMETHASONE; GLUCOCORTICOID; HYDROCORTISONE; HYDROXYPROGESTERONE; PRASTERONE; STEROID 21 MONOOXYGENASE;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; DIAGNOSTIC ACCURACY; GENE CONVERSION; GENE DELETION; GENE REARRANGEMENT; GENETIC COUNSELING; GENETIC RISK; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYDROCORTISONE RELEASE; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; REVIEW; SALT LOSING NEPHRITIS; SEX DETERMINATION; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS; VIRILIZATION;

EID: 34547228303     PISSN: 14623994     EISSN: 14623994     Source Type: Journal    
DOI: 10.1017/S1462399407000300     Document Type: Review

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