Jin Zhang Kwan Leong Woo Yongxiong Hai Shimin Wang Ying Lin Ying Huang Xiaofang Peng HongShi Wu Shaoling Zhang Li Yan Yan Li
10.3389/fendo.2022.1020880
Front Endocrinol (Lausanne)
2022 Nov 28;13:1020880.
por mutation c1379 c>a (ps460y) variant congenital adrenal hyperplasia cytochrome p450 oxidoreductase deficiency maternal hyperandrogenism
CC BY
https://pubmed.ncbi.nlm.nih.gov/36518257/
Adrenal Hyperplasia, Congenital / complications Adrenal Hyperplasia, Congenital / diagnosis Adrenal Hyperplasia, Congenital / genetics Antley-Bixler Syndrome Phenotype / diagnosis Antley-Bixler Syndrome Phenotype / genetics Disorders of Sex Development
Adrenal Hyperplasia, Congenital / complications Adrenal Hyperplasia, Congenital / diagnosis Adrenal Hyperplasia, Congenital / genetics Antley-Bixler Syndrome Phenotype / diagnosis Antley-Bixler Syndrome Phenotype / genetics Disorders of Sex Development Case Reports Research Support, Non-U.S. Gov't Adult Child Female Humans Infant, Newborn Male Oxidoreductases Pregnancy Virilism Oxidoreductases
PMC9742467
36518257
Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
2022