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The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.

Human molecular genetics - 10 Nov 2022

Delhon Laure, Mougin Zakaria, Jonquet Jérémie, Bibimbou Angélique, Dubail Johanne, Bou-Chaaya Cynthia, Goudin Nicolas, Le Goff Wilfried, Boileau Catherine, Cormier-Daire Valérie, Le Goff Carine

Abstract excerpt

Mutations in the fibrillin-1 (FBN1) gene are responsible for the autosomal dominant form of geleophysic dysplasia (GD), which is characterized by short stature and extremities, thick skin and cardiovascular disease. All known FBN1 mutations in patients with GD are localized within the region encoding the transforming growth factor-β binding protein-like 5 (TB5) domain of this protein. Herein, we generated a...

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Bone Diseases, Developmental
Fibrillin-1
Limb Deformities, Congenital
Marfan Syndrome
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35660865
DOI: 10.1093/hmg/ddac131

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