Article

Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts

2019-09-09

Abstract excerpt

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 from impaired foetal movement. We show that cells derived from FADS individuals have shorter and less primary cilia (PC),...

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Literature Corpus work: d6050348-6d2f-506d-9094-07a146cf15f7
DOI: 10.1101/756734

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