The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome.
Siddharth K PrakashPublished in: American journal of medical genetics. Part C, Seminars in medical genetics (2019)
Somatic mosaicism is a major modifier of turner syndrome (TS) features and may be more prevalent than once thought, as new molecular techniques enable detection of tissue-specific mosaicism. This review explores the causes of mosaicism, discusses how mosaicism may impact congenital aortic defects in TS, and summarizes molecular methods to detect mosaicism in different contexts.
Keyphrases
- aortic valve
- aortic dissection
- aortic stenosis
- transcatheter aortic valve replacement
- transcatheter aortic valve implantation
- aortic valve replacement
- case report
- copy number
- left ventricular
- gene expression
- coronary artery disease
- dna methylation
- pulmonary artery
- pulmonary arterial hypertension
- ejection fraction
- atrial fibrillation
- quantum dots