Biallelic CRELD1 Variants Cause a Multisystem Syndrome, Including Neurodevelopmental Phenotypes, Cardiac Dysrhythmias, and Frequent Infections.
Lauren Jeffries,Emily K. Mis,Kirsty McWalter,Sandra Donkervoort,Nina N. Brodsky,Jean-Marie Carpier,Weizhen Ji, Cristian Ionita,Bhaskar Roy,Jon S. Morrow,Armine Darbinyan,Krishna Iyer,Ritu B. Aul,Siddharth Banka,Katherine R. Chao, Laura Cobbold,Stacey Cohen,Helena M. Custodio,Margaret Drummond-Borg,Frances Elmslie,Erika Finanger,Bryan E. Hainline,Ingo Helbig,Stacy Hewson,Ying Hu,Adam Jackson,Dragana Josifova,Monica Konstantino,Meganne E. Leach, Bryan Mak,David McCormick, Elisabeth McGee,Stanley Nelson,Joanne Nguyen,Kimberly Nugent, Lucy Ortega,Howard P. Goodkin,Elizabeth Roeder,Sani Roy,Katie Sapp,Dimah Saade,Sanjay M. Sisodiya,Karen Stals,Shelley Towner,William Wilson,Mustafa K. Khokha,Carsten G. Boennemann,Carrie L. Lucas,Saquib A. Lakhani GENETICS IN MEDICINE（2024）
Key words
Cardiac arrythmia,CRELD1,Developmental delay,Epilepsy,Hypotonia
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper