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

Mauro Lecca, Davut Pehli̇van, Damián Heine‐Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial‐Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer E. Posey, Sadık Etka Bayramoğlu, Alper Gezdirici, Jessica Hernández-Rodríguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristòfol Vives-Bauzá, Liat Ben‐Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hız, Ece Sönmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horváth, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier‐Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello