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2018•Human GeneticsOpen access

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Ddd Study, Fabiola Ceroni, Domingo Aguilera‐Garcia, Nicolas Chassaing, Dorine A. Bax, Fiona Blanco‐Kelly, Patricia Ramos, M. Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, María Juliana Ballesta‐Martínez, María José Sánchez-Soler, Richard James Holt, Lisa Cooper‐Charles, Jonathan Bruty, Yvonne Wallis, Dominic J. McMullan, Jonathan Hoffman, David J. Bunyan, Alison Stewart, Helen S. Stewart, Katherine L. Lachlan, Alan E Fryer, Victoria H. McKay, J. Roume, Pascal Dureau, Anand Saggar, Michael Griffiths, Patrick Calvas, Carmen Ayuso, Marta Cortón, Nicola Ragge

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Key concepts: Microphthalmia, Anophthalmia, Coloboma, Biology, Missense mutation, Genetics, Eye development, Phenotype

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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies — Research Paper | ScholarLens