De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
Rebecca Fluri, Mireia Coll-Tané, Theresa Brunet, Benjamin Cogné, Solène Conrad, Mathilde Nizon, Francesco Nicita, Lorena Travaglini, Antonio Novelli, Margie Glissmeyer, Amanda Peterson, Jillian G. Buchan, Dan Serber, Kolja Meier, Jutta Gärtner, , Anne Gregor
The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.
The American Journal of Human Genetics · Jun 19, 2026Peer-reviewedGenetic & Genomic Medicine