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pro vyhledávání: '"Wilnelia Medina Torres"'
Autor:
Janet Marie Colon Castellano, Wilnelia Medina Torres, Alberto Javier Grana Santini, Nydia Ivette Burgos Ortega, Margarita Ramirez, Milliette Alvarado, Loida Gonzalez-Rodriguez, Nicolle Canales Ramos
Publikováno v:
Journal of the Endocrine Society
Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder presenting with abnormal eye development, which leads to glaucoma related blindness in 50% of individuals. Associated mutations affect the transcription factors pituitary homeobox 2 gen