SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome.

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome. Camille Laberthonnière 1 , Raphaël Chevalier 1 , Camille Dion 1 , Mégane Delourme 1 , David Hirst 1 , José Adélaïde 2 , Max Chaffanet 2 , Shifeng Xue 3;4 , Karine Nguyen 1;5 , Bruno Reversade 3;6;7;8 , Jérôme Déjardin 9 , Anais Baudot 1 , Jérôme D. Robin 1 , Frédérique Magdinier 1# . 1. Aix Marseille Univ, INSERM MMG, Marseille, France. 2. Laboratory of Predictive Oncology, Centre de Recherche en Cancérologie de Marseille (CRCM), Institut Paoli-Calmettes, INSERM UMR1068, CNRS UMR725, Aix-Marseille Université, Marseille, France 3. Department of Biological Sciences, National University of Singapore, Singapore 117558 4. Institute of Molecular and Cell Biology, A*STAR, Singapore 138673 5. Département de Génétique Médicale, AP-HM, Hôpital d’enfants de la Timone, Marseille, France. 6. Genome Institute of Singapore, A*STAR, Singapore 138672 7. Medical Genetics Department, Koç University School of Medicine (KUSOM), 34010, Istanbul, Turkey 8. Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228 9. Institut de Génétique Humaine UMR9002 CNRS-Université de Montpellier. France. #. Corresponding author: Frédérique MAGDINIER Corresponding author’s address: Marseille Medical Genetics, U1251, INSERM; Aix Marseille University. Faculté des Sciences Médicales et Paramédicales de la Timone. 27, Bd Jean Moulin 13005 Marseille, France. Corresponding author’s phone: +33 4 91 32 49 08 Corresponding author’s e-mail address: [email protected] . CC-BY-NC-ND 4.0 International license made available under a (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is The copyright holder for this preprint this version posted May 17, 2021. ; https://doi.org/10.1101/2021.05.17.444338 doi: bioRxiv preprint

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome.

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