Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation
新型PCDH12致病性错义变异导致神经发育障碍和眼部畸形
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doi:10.64898/2026.03.05.26343794
Rakotomamonjy, Jennifer; Fares-Taie, Lucas; Kumar, Raman; Gebert, Cole; Magaña-Hernandez, Laura; Blaszkiewicz, Anna; Benson, Theresa; Fairbanks-Santana, Martín; Trejo, Angela; Rogers, R Curtis; Mayer, Claudine; Chennen, Kirsley; Poch, Olivier; Bardakjian, Tanya M; Tropea, Thomas F; Gonzalez-Alegre, Pedro; Carvill, Gemma L; Zhang, Jamie; Agarwala, Shreya; Jolly, Lachlan A; Van Bergen, Nicole J; Balasubramaniam, Shanti; Ellaway, Carolyn J; Christodoulou, John; Gecz, Jozef; Rozet, Jean-Michel; Guemez-Gamboa, Alicia