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Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts

Ciliopathies are clinical disorders of the primary cilium with widely recognised phenotypic and genetic heterogeneity. Here, we found impaired ciliogenesis in fibroblasts derived from individuals with fetal akinesia deformation sequence (FADS), a broad spectrum of neuromuscular disorders arising fro...

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Foilsithe in:Sci Rep
Main Authors: Jühlen, Ramona, Martinelli, Valérie, Vinci, Chiara, Breckpot, Jeroen, Fahrenkrog, Birthe
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group UK 2020
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7652866/
https://ncbi.nlm.nih.gov/pubmed/33168876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-76192-1
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