A differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report.
Elay RabinovichAnat Hershko-KlementYaakov BentovPublished in: Journal of medical case reports (2024)
Both cases highlight the distinctiveness of the condition, where an identical mutation in the gene responsible for the same enzyme can bring about diverse phenotypes. Case I offers a potential treatment protocol for this rare disorder.
Keyphrases
- end stage renal disease
- chronic kidney disease
- copy number
- ejection fraction
- newly diagnosed
- randomized controlled trial
- peritoneal dialysis
- patient reported outcomes
- genome wide identification
- adipose tissue
- transcription factor
- skeletal muscle
- insulin resistance
- polycystic ovary syndrome
- replacement therapy
- smoking cessation