Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
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Published:2023-04
Issue:4
Volume:110
Page:681-690
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
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 EdoardoORCID
Subject
Genetics (clinical),Genetics
Cited by
6 articles.
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