A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation
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Stem cell research - ISSN 1873-5061-67 (2023) p. 1-4
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
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Genetics in medicine - ISSN 1530-0366-24:5 (2022) p. 1045-1053
Novel LOX variants in five families with aortic/arterial aneurysm and dissection with variable connective tissue findings
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International journal of molecular sciences - ISSN 1422-0067-22:13 (2021) p.
A human importin-β-related disorder : syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
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The American journal of human genetics - ISSN 0002-9297-108:6 (2021) p. 1115-1125
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
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Scientific reports - ISSN 2045-2322-11:1 (2021) p.