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Endocrinology, ISSN 0013-7227, 12/2017, Volume 158, Issue 12, pp. 4165 - 4173
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 5, pp. 410 - 421
Journal Article
Journal Article
Pediatric nephrology (Berlin, Germany), ISSN 0931-041X, 08/2019, pp. 1 - 2
Journal Article
Pediatric nephrology (Berlin, Germany), ISSN 0931-041X, 08/2019, pp. 1 - 3
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 26
17-hydroxylase deficiency (17OHD) is a very rare disorder characterized by glucocorticoid deficiency, hypergonadotropic hypogonadism, hypertension, and... 
Hypertension | Puberty | Mutation | Girls
Journal Article
JCRPE Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2018, Volume 10, Issue 2, pp. 125 - 130
Journal Article
Bone, ISSN 8756-3282, 2009, Volume 46, Issue 2, pp. 402 - 409
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 2
Cytochrome P450 side-chain cleavage enzyme (CYP11A1) is the first enzyme and catalyzes the rate-limiting step of steroidogenesis. CYP11A1 deficiency is... 
Enzymes | Adrenal glands | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 709 - 713
Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital... 
PROTEIN | GENE | NEURAL CREST | TRANSCRIPTION | GENETICS & HEREDITY | Germ cells | Gene mutations | Physiological aspects | Genetic aspects | Research | Craniofacial abnormalities | Health aspects | Risk factors | Cell culture | Congenital diseases | Colleges & universities | Genetics | Ears & hearing | Genomes | Gene loci | Mutation | Reptiles & amphibians | Deoxyribonucleic acid--DNA
Journal Article
EBioMedicine, ISSN 2352-3964, 10/2018, Volume 36, pp. 376 - 389
Deficient glucocorticoid biosynthesis leading to adrenal insufficiency is life-threatening and is associated with significant co-morbidities. The affected... 
Oxidative stress | Zebrafish | Adrenal insufficiency | Ferredoxin | Purine metabolism | MEDICINE, RESEARCH & EXPERIMENTAL | STEROIDOGENESIS | RECEPTOR | MODEL | IDENTIFICATION | REGULATOR | ENZYME | BIOSYNTHESIS | GENE-EXPRESSION | MORPHOLOGY
Journal Article
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 01/2014, Volume 99, Issue 1, pp. E169 - E176
Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can... 
Journal Article
Journal Article