Ahmed Khattab Tony Yuen Sultan Al-Malki Mabel Yau Diya Kazmi Li Sun Madeleine Harbison Shozeb Haider Mone Zaidi Maria I New
10.1111/nyas.12864
Ann N Y Acad Sci
2016 Jan;1364(1):5-10.
cyp21a2 khattab, a, t yuen, s al-malki, m yau, d kazmi, l sun, m harbison, s haider, m zaidi & mi new 2015 a rare cyp21a2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance in “marrow,” ed by m za congenital adrenal hyperplasia genotype pr366h phenotype
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26291314/
Adrenal Hyperplasia, Congenital / genetics Exons Gene Deletion Heterozygote Models, Molecular Point Mutation Steroid 21-Hydroxylase / genetics
Adrenal Hyperplasia, Congenital / genetics Exons Gene Deletion Heterozygote Models, Molecular Point Mutation Steroid 21-Hydroxylase / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adrenal Glands / drug effects Adrenal Glands / metabolism Adrenal Glands / physiopathology Adrenal Hyperplasia, Congenital / drug therapy Adrenal Hyperplasia, Congenital / metabolism Adrenal Hyperplasia, Congenital / physiopathology Amino Acid Substitution Aromatase Inhibitors / therapeutic use Child Computational Biology DNA Mutational Analysis Drug Therapy, Combination Expert Systems Glucocorticoids / therapeutic use Humans Male Pedigree Protein Conformation Siblings Steroid 21-Hydroxylase / chemistry Steroid 21-Hydroxylase / metabolism Treatment Outcome Aromatase Inhibitors Glucocorticoids CYP21A2 protein, human Steroid 21-Hydroxylase Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
PMC4761329
26291314
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance
2016