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Article dans une revue

Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway

Abstract :

Fibrodysplasia ossificans progressiva is a very rare heritable disease characterized by a progressive heterotopic endochondal ossification, occurring in the first decade of life, and leading thereafter to a severe ankylosis of the spine, limbs and jaw, with a progressive and severe functional disability. To date the cause of the disease remains unknown and no medical treatment has been proved efficient. It has recently been shown that a recurrent mutation in activation domain of the activin-receptor IA (ACVR1), a BMP receptor, could lead to an abnormal signalling pathway of BMP-4 and contribute to the occurrence of the devastating lesions characteristic of the disease.

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Article dans une revue
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https://hal.univ-angers.fr/hal-02869267
Contributeur : Okina Université d'Angers <>
Soumis le : lundi 15 juin 2020 - 20:40:01
Dernière modification le : mardi 16 juin 2020 - 03:51:13

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Béatrice Bouvard, Charles Masson, Erick Legrand, Maurice Audran. Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway. Morphologie, Elsevier Masson, 2016, 100 (331), pp.250-255. ⟨10.1016/j.morpho.2016.01.004⟩. ⟨hal-02869267⟩

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