Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in <i>MCCC1</i> and <i>GNB5</i> Causing Overlapping Phenotypes

by Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T. Maynes, Erika Tavares, Asim Ali, Stacy Hewson, Andreas Schulze, Peter Kannu, Kirill A. Martemyanov, Ajoy Vincent
Published 2021-08-01

Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night Blindness

by Kate E. Leahy, Tom Wright, Monika K. Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J. Raymond Buncic, Ajoy Vincent
Published 2021-02-01