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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2013, Volume 110, Issue 7, pp. 2605 - 2610
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2013, Volume 110, Issue 7, pp. 2611 - 2616
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 01/2016, Volume 1364, Issue 1, pp. 5 - 10
Congenital adrenal hyperplasia (CAH) owing to 21‐hydroxylase deficiency is caused by the autosomal recessive in‐heritance of mutations in the gene CYP21A2 .... 
phenotype | mutation in a congenital adrenal hyperplasia kindred displaying genotype–phenotype nonconcordance. In “MARROW,” ed. by M. Zaidi | 1364: 5–10 | CYP21A2 | p.R366H | Ann. N.Y. Acad. Sci | congenital adrenal hyperplasia | Khattab, A., T. Yuen, S. Al‐Malki, M. Yau, D. Kazmi, L. Sun, M. Harbison, S. Haider, M. Zaidi & M.I. New. 2015. A rare | genotype | Genotype | Phenotype | Congenital adrenal hyperplasia | Khattab, A., T. Yuen, S. Al-Malki, M. Yau, D. Kazmi, L. Sun, M. Harbison, S. Haider, M. Zaidi & M.I. New. 2015. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying | P.R366H | 21-HYDROXYLASE DEFICIENCY | ENDOCRINOLOGY & METABOLISM | Glucocorticoids - therapeutic use | Adrenal Hyperplasia, Congenital - drug therapy | Exons | Expert Systems | Humans | Steroid 21-Hydroxylase - metabolism | Male | Adrenal Hyperplasia, Congenital - genetics | DNA Mutational Analysis | Gene Deletion | Steroid 21-Hydroxylase - genetics | Steroid 21-Hydroxylase - chemistry | Adrenal Glands - drug effects | Drug Therapy, Combination | Aromatase Inhibitors - therapeutic use | Child | Siblings | Adrenal Hyperplasia, Congenital - metabolism | Computational Biology | Models, Molecular | Treatment Outcome | Point Mutation | Adrenal Glands - metabolism | Pedigree | Adrenal Glands - physiopathology | Adrenal Hyperplasia, Congenital - physiopathology | Heterozygote | Protein Conformation | Amino Acid Substitution | Genetic research | Genetic aspects | Genetic disorders | Adrenogenital syndrome | Cytochrome P-450 | Adrenal glands | Genotype & phenotype | Mutation | Index Medicus | Mutations | Genes | Impairment | Disorders | Deletion | Genetics | Mathematical models | Gene sequencing
Journal Article
Gene, ISSN 0378-1119, 03/2019, Volume 687, pp. 30 - 34
The gene encoding 21‑hydroxylase is on chromosome 6p21.3 within the human leukocyte antigen (HLA) class III major histocompatibility complex and an association... 
CYP21A2 | Human leukocyte antigen | Congenital adrenal hyperplasia | STEROID 21-HYDROXYLASE | SUSCEPTIBILITY | PREVALENCE | DEFICIENCY | GENES | FREQUENCY | GENETICS & HEREDITY | LATE-ONSET | PSORIASIS | HLA-DRB1 | EHLERS-DANLOS-SYNDROME | Index Medicus
Journal Article
Journal of Endocrinological Investigation, ISSN 0391-4097, 5/2015, Volume 38, Issue 5, pp. 505 - 511
Journal Article
Journal Article