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
- ejection fraction
- copy number
- chronic kidney disease
- genome wide
- newly diagnosed
- randomized controlled trial
- prognostic factors
- peritoneal dialysis
- type diabetes
- adipose tissue
- gene expression
- dna methylation
- metabolic syndrome
- insulin resistance
- skeletal muscle
- climate change
- polycystic ovary syndrome
- genome wide analysis
- human health