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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Jühlen, Ramona, Martinelli, Valérie, Vinci, Chiara, Breckpot, Jeroen, Fahrenkrog, Birthe
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Acesso em linha: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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