Article

Pleiotropy in <i>FOXC1</i> -attributable phenotypes involves altered ciliation and cilia-dependent signaling

2020-08-13

Abstract excerpt

Alterations to cilia are responsible for a wide range of severe disease; however, understanding of the transcriptional control of ciliogenesis remains incomplete. We evaluated whether ciliary dysfunction contributed to the pleiotropic phenotypes caused by the Forkhead transcription factor FOXC1 . Here, we show that patients with FOXC1 -attributable Axenfeld-Rieger Syndrome (ARS) have a prevalence of ciliopathy-...

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Literature Corpus work: 31d6e712-1fc0-5505-a2d2-daa3b2192625
DOI: 10.1101/2020.08.13.249334

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