Pathogenic Variants in MDFIC Cause Recessive Central Conducting Lymphatic Anomaly with Lymphedema
Alicia B. Byrne,Pascal Brouillard,Drew L. Sutton,Jan Kazenwadel, Saba Montazaribarforoushi,Genevieve A. Secker,Anna Oszmiana,Milena Babic,Kelly L. Betterman,Peter J. Brautigan,Melissa White,Sandra G. Piltz,Paul Q. Thomas,Christopher N. Hahn,Matthias Rath,Ute Felbor,G. Christoph Korenke,Christopher L. Smith,Kathleen H. Wood,Sarah E. Sheppard,Denise M. Adams,Ariana Kariminejad,Raphael Helaers,Laurence M. Boon,Nicole Revencu,Lynette Moore,Christopher Barnett,Eric Haan,Peer Arts,Miikka Vikkula,Hamish S. Scott,Natasha L. Harvey Science Translational Medicine(2022)
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