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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
J Med Genet. 2024 Apr 19;61(5):469-476. doi: 10.1136/jmg-2023-109646.
J Med Genet. 2024.
PMID: 38458756
Free PMC article.
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Delhon L, Mougin Z, Jonquet J, Bibimbou A, Dubail J, Bou-Chaaya C, Goudin N, Le Goff W, Boileau C, Cormier-Daire V, Le Goff C.
Delhon L, et al. Among authors: mougin z.
Hum Mol Genet. 2022 Nov 10;31(22):3777-3788. doi: 10.1093/hmg/ddac131.
Hum Mol Genet. 2022.
PMID: 35660865
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ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms.
Mougin Z, Huguet Herrero J, Boileau C, Le Goff C.
Mougin Z, et al.
Biomolecules. 2021 Dec 22;12(1):12. doi: 10.3390/biom12010012.
Biomolecules. 2021.
PMID: 35053160
Free PMC article.
Review.
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Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.
Arnaud P, Mougin Z, Boileau C, Le Goff C.
Arnaud P, et al. Among authors: mougin z.
Front Genet. 2021 Nov 29;12:734718. doi: 10.3389/fgene.2021.734718. eCollection 2021.
Front Genet. 2021.
PMID: 34912367
Free PMC article.
Review.
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