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

Carmona, Sda Luz Freitas, MGFroufe, HSimões, MJSampaio, MJSilva, EDEgas, C2017-08-242017-08-242017-06Am J Med Genet A. 2017 Jun;173(6):1607-1610http://hdl.handle.net/10400.26/18869engAnomalias Congénitas do OlhoProteína FOXC1FOXC1 protein, humanEye AbnormalitiesNovel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patientjournal article10.1002/ajmg.a.38234