Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient

Carmona, Sda Luz Freitas, MFroufe, HSimões, MJSampaio, MJSilva, EDEgas, C2017-06-202017-06-202017-06Am J Med Genet A. 2017 Jun;173(6):1607-1610.http://hdl.handle.net/10400.26/18557engAnomalias Congénitas do OlhoFOXC1 Protein HumanEye AbnormalitiesFOXC1 protein, humanNovel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patientjournal article10.1002/ajmg.a.38234