Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
Titel:
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
Auteur:
Vaclavik, Veronika Navarro, Aurelie Jacot-Guillarmod, Alain Bottani, Armand Sun, Young Joo Franco, Joel A. Mahajan, Vinit B. Smirnov, Vasily Bouvet-Drumare, Isabelle
Verschenen in:
Graefe's archive for clinical and experimental ophthalmology