Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
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…·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.
DOI 10.1016/j.ajhg.2026.05.012