Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

Authors: Lecca, Mauro, Pehlivan, Davut, Suñer, Damià Heine, Weiss, Karin, Coste, Thibault, Zweier, Markus, Oktay, Yavuz, Danial-Farran, Nada, Rosti, Vittorio, Bonasoni, Maria Paola, Malara, Alessandro, Contrò, Gianluca, Zuntini, Roberta, Pollazzon, Marzia, Pascarella, Rosario, Neri, Alberto, Fusco, Carlo, Marafi, Dana, Mitani, Tadahiro, Posey, Jennifer Ellen, Bayramoglu, Sadik Etka, Gezdirici, Alper, Hernandez-Rodriguez, Jessica, Cladera, Emilia Amengual, Miravet, Elena, Roldan-Busto, Jorge, Ruiz, María Angeles, Bauzá, Cristofol Vives, Ben-Sira, Liat, Sigaudy, Sabine, Begemann, Anaïs, Unger, Sheila, Güngör, Serdal, Hiz, Semra, Sonmezler, Ece, Zehavi, Yoav, Jerdev, Michael, Balduini, Alessandra, Zuffardi, Orsetta, Horvath, Rita, Lochmüller, Hanns, Rauch, Anita, Garavelli, Livia, Tournier-Lasserve, Elisabeth, Spiegel, Ronen, Lupski, James R., Errichiello, Edoardo

Source: In The American Journal of Human Genetics 6 April 2023 110(4):681-690