van-der-Laan, Liselot; Rooney, Kathleen; Alders, Marielle; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael-A; Lauffer, Peter; Aerden, Mio; Theunis, Miel; Legius, Eric; Tedder, Matthew-L; Vissers, Lisenka-ELM; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette-J, V; Wieczorek, Dagmar; Bramswig, Nuria-C; Herget, Theresia; López-González, Vanesa; Santos-Simarro, Fernando; Torring, Pernille-M; Denomme-Pichon, Anne-Sophie; Isidor, Bertrand; Keren, Boris; Julia, Sophie; Schaefer, Elise; Francannet, Christine; Maillard, Pierre-Yves; Misra-Isrie, Mala; Van-Esch, Hilde; Mannens, Marcel-MAM; Sadikovic, Bekim; van-Haelst, Mieke-M; Henneman, Peter
(MDPI, 2022-11)
Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the TRIP12 (Thyroid Hormone Receptor Interactor 12) gene. TRIP12 encodes an E3 ligase in the ubiquitin ...