A Natural History Study of Timothy Syndrome
Katherine W. Timothy, Rosemary Bauer, Kerry A. Larkin, Edward Patrick Walsh, Dominic James Abrams, M. Cecilia Gonzalez Corcia, Alexandra Valsamakis, Geoffrey S. Pitt, Ivy E. Dick, Andy Golden
This study describes the first natural history of Timothy syndrome, identifying common extra-cardiac features beyond cardiac issues.
Orphanet Journal of Rare Diseases · Nov 23, 2024Peer-reviewedGenetic & Genomic Medicine