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by Baronio and Ortolano and Menabò and Cassio and Baldazzi and Di Natale and Tonti and Vestrucci and Balsamo
International Journal of Molecular Sciences, ISSN 1422-0067, 09/2019, Volume 20, Issue 18, p. 4605
The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal,... 
21-hydroxylase deficiency | androgen excess | 11-hydroxylase deficiency | 46,XX DSD | 3β-hydroxysteroid dehydrogenase deficiency | aromatase deficiency | POR deficiency
Journal Article
Angewandte Chemie International Edition, ISSN 1433-7851, 12/2016, Volume 55, Issue 49, pp. 15424 - 15428
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 2019, Volume 294, Issue 2, pp. 453 - 460
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2010, Volume 95, Issue 2, pp. 779 - 788
Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD... 
POINT MUTATIONS | 21-HYDROXYLASE | ADRENODOXIN | 11-HYDROXYLASE DEFICIENCY | ALDOSTERONE SYNTHASE | ENDOCRINOLOGY & METABOLISM | UNEQUAL CROSSING-OVER | CONGENITAL ADRENAL-HYPERPLASIA | BETA-HYDROXYLASE DEFICIENCY | STRUCTURAL FEATURES | PRENATAL-DIAGNOSIS | Original
Journal Article
ENDOCRINE, ISSN 1355-008X, 11/2018, Volume 62, Issue 2, pp. 326 - 332
Journal Article
Cellular Physiology and Biochemistry, ISSN 1015-8987, 10/2017, Volume 42, Issue 5, pp. 2130 - 2143
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 5, pp. 610 - 616
Journal Article
Journal Article
International Journal of Endocrinology, ISSN 1687-8337, 2014, Volume 2014, pp. 295724 - 8
Introduction. Adrenal glands play a major role in the control of blood pressure and mild defects of steroidogenesis and/or inappropriate control of... 
POINT MUTATIONS | HYDROXYLASE | 11-HYDROXYLASE | 21-HYDROXYLASE DEFICIENCY | CYP11B1 | ENDOCRINOLOGY & METABOLISM | CONSEQUENCES | PHENOTYPE | HYPERPLASIA | ADULT | FAMILY | Hypertension | Physiological aspects | Development and progression | Genetic aspects | Research | Aldosterone
Journal Article