Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

Source
Genetics in medicine - ISSN 1530-0366-24:5 (2022) p. 1045-1053
Author(s)

Novel LOX variants in five families with aortic/arterial aneurysm and dissection with variable connective tissue findings

Source
International journal of molecular sciences - ISSN 1422-0067-22:13 (2021) p.
Author(s)

A human importin-β-related disorder : syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Source
The American journal of human genetics - ISSN 0002-9297-108:6 (2021) p. 1115-1125
Author(s)