Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel
Source
Genome medicine - ISSN 1756-994X-16:1 (2024) p. 1-14
An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome
Source
Drug discovery today - ISSN 1359-6446-29:7 (2024) p. 1-12
Investigation of strategies to block downstream effectors of AT1R-mediated signalling to prevent aneurysm formation in Marfan syndrome
Source
International journal of molecular sciences - ISSN 1661-6596-25:9 (2024) p. 1-12
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-9
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier
Source
Frontiers in genetics - ISSN 1664-8021-14 (2023) p. 1-7