GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
GJA8相关发育性眼病:一项新的多中心研究揭示了突变热点和基因型-表型相关性
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01843-8
Merepa, Solomon S; Reis, Linda M; Damián, Alejandra; Bardakjian, Tanya; Schneider, Adele; Trujillo-Tiebas, María Jose; Ayuso, Carmen; Galarza, Laura Cortázar; Saez Villaverde, Raquel; Ortiz-Cabrera, Nelmar Valentina; Bax, Dorine A; Holt, Richard; Ceroni, Fabiola; Edery, Patrick; Grelet, Maude; Riccardi, Florence; Maillard, Lauriane; Costakos, Deborah; Plaisancié, Julie; Chassaing, Nicolas; Corton, Marta; Semina, Elena V; Ragge, Nicola K