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Updated: Jul 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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IRF2BPL 引起轻度智力障碍,随后是晚期发病的性衰竭

Solveig Heide1, Claire-Sophie Davoine1, Paulina Cunha1

  • 1From the Genetic Department (S.H., B.K., P. Charles, D.H., A.D.), Assistance Publique-Hôpitaux de Paris (AP-HP) Pitié-Salpêtrière; Reference Center for Rare Diseases « Intellectual disabilites of rare causes » « Déficiences Intellectuelles de Causes Rares » (S.H., P. Charles, D.H.), Pitié-Salpêtrière Hospital; Sorbonne Université (C.-S.D., P. Cunha, G.S., A.B., A.D.), Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP); Department of Neurology (C.S.-G.), University Hospital d'Angers; and INCIA (G.S.), EPHE, Université de Bordeaux, France.

Neurology. Genetics
|January 18, 2024
PubMed
概括

干扰素调节因子2结合蛋白样 (IRF2BPL) 基因中的致病变体可以导致神经发育障碍和晚发的神经退行性疾病,突出显示出一个共享的分子谱.

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