Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Author:

Guissart Claire,Latypova Xenia,Rollier Paul,Khan Tahir N.,Stamberger Hannah,McWalter Kirsty,Cho Megan T.,Kjaergaard Susanne,Weckhuysen Sarah,Lesca Gaetan,Besnard Thomas,Õunap Katrin,Schema Lynn,Chiocchetti Andreas G.,McDonald Marie,de Bellescize Julitta,Vincent Marie,Van Esch Hilde,Sattler Shannon,Forghani Irman,Thiffault Isabelle,Freitag Christine M.,Barbouth Deborah Sara,Cadieux-Dion Maxime,Willaert Rebecca,Guillen Sacoto Maria J.,Safina Nicole P.,Dubourg Christèle,Grote Lauren,Carré Wilfrid,Saunders Carol,Pajusalu Sander,Farrow Emily,Boland Anne,Karlowicz Danielle Hays,Deleuze Jean-François,Wojcik Monica H.,Pressman Rena,Isidor Bertrand,Vogels Annick,Van Paesschen Wim,Al-Gazali Lihadh,Al Shamsi Aisha Mohamed,Claustres Mireille,Pujol Aurora,Sanders Stephan J.,Rivier François,Leboucq Nicolas,Cogné Benjamin,Sasorith Souphatta,Sanlaville Damien,Retterer Kyle,Odent Sylvie,Katsanis Nicholas,Bézieau Stéphane,Koenig Michel,Davis Erica E.,Pasquier Laurent,Küry Sébastien

Funder

Agence Nationale pour la Recherche/E-rare Joint-Transnational-Call 2011

National Human Genome Research Institute

National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program

National Eye Institute

NIH

Estonian Research Council

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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