Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. - Uwibambe, Esther; Yalcouyé, Abdoulaye; Aboagye, Elvis Twumasi; Xhakaza, Lettilia; Popel, Kalinka; Dukuze, Norbert; Bharadwaj, Thashi; de Kock, Carmen; Schrauwen, Isabelle; Leal, Suzanne M.; Mutesa, Leon; Wonkam, Ambroise (BMC Medical Genomics, 2025)