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The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome
Author(s) -
Prakash Siddharth K.
Publication year - 2019
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31691
Subject(s) - turner syndrome , bicuspid aortic valve , aortic dissection , germline mosaicism , somatic cell , turner's syndrome , medicine , cardiology , genetics , biology , aortic valve , aorta , gene
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.