Article
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Ophthalmic genetics - 1 Sept 2016
Primignani Paola, Allegrini Davide, Manfredini Emanuela, Romitti Lorenza, Mauri Lucia, Patrosso Maria Cristina, Veniani Emanuela, Franzoni Alessandra, Del Longo Alessandra, Gesu Giovanni Pietro, Piozzi Elena, Damante Giuseppe, Penco Silvana
Abstract excerpt
PURPOSE: To uncover underlying mutations in a cohort of Italian patients with aniridia, a rare congenital panocular condition with an incidence ranging from 1:64,000 to 1:100,000. The disease may be found isolated or in association with other syndromes characterized by partial or complete absence of the iris and iris hypoplasia. METHODS: We analyzed the PAX6 gene in 11 patients with aniridia fulfilling the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.