Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
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Published:2021-06
Issue:6
Volume:108
Page:1126-1137
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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:
Ziegler Alban, Duclaux-Loras Rémi, Revenu Céline, Charbit-Henrion Fabienne, Begue Bernadette, Duroure Karine, Grimaud Linda, Guihot Anne Laure, Desquiret-Dumas Valérie, Zarhrate Mohammed, Cagnard Nicolas, Mas Emmanuel, Breton Anne, Edouard Thomas, Billon Clarisse, Frank Michael, Colin Estelle, Lenaers Guy, Henrion Daniel, Lyonnet Stanislas, Faivre Laurence, Alembik Yves, Philippe Anaïs, Moulin Bruno, Reinstein Eyal, Tzur Shay, Attali Ruben, McGillivray George, White Susan M., Gallacher Lyndon, Kutsche Kerstin, Schneeberger Pauline, Girisha Katta M., Nayak Shalini S., Pais Lynn, Maroofian Reza, Rad Aboulfazl, Vona Barbara, Karimiani Ehsan Ghayoor, Lekszas Caroline, Haaf Thomas, Martin Ludovic, Ruemmele Frank, Bonneau Dominique, Cerf-Bensussan Nadine, Del Bene Filippo, Parlato MariannaORCID
Funder
European Research Council
Subject
Genetics (clinical),Genetics
Cited by
17 articles.
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