Genetics and epidemiology of aniridia: Updated guidelines for genetic study

Fiona Blanco‐Kelly, M. Tarilonte, Manuela Villamar, Alejandra Damián, A. Tamayo, Miguel A. Moreno‐Pelayo, Carmen Ayuso, Marta Cortón

2021Archivos de la Sociedad Española de Oftalmología (English Edition)17 citationsDOI

Topics & Concepts

AniridiaPAX6HaploinsufficiencyGeneticsBiologyGenetic testingPhenotypeGeneTranscription factorDevelopmental Biology and Gene RegulationIntraocular Surgery and LensesRetinal Development and Disorders