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Clinical and Functional Heterogeneity Associated with the Disruption of Retinoic Acid Receptor Beta.

Veronique Caron,Nicolas Chassaing,Nicola Ragge,Felix Boschann,Angelina My-Hoa Ngu, Elisabeth Meloche,Sarah Chor,Saquib A. Lakhani,Weizhen Ji,Laurie Steiner,Julien Marcadier,Philip R. Jansen,Laura A. van de Pol,Johanna M. van Hagen,Alvaro Serrano Russi,Gwenael Le Guyader,Magnus Nordenskjold,Ann Nordgren,Britt-Marie Anderlid,Julie Plaisancie,Corinna Stoltenburg,Denise Horn,Anne Drenckhahn,Fadi F. Hamdan,Mathilde Lefebvre,Tania Attie-Bitach,Peggy Forey,Vasily Smirnov, Francoise Ernould,Marie-Line Jacquemont,Sarah Grotto, Alberto Alcantud,Alicia Coret,Rosario Ferrer-Avargues,Siddharth Srivastava,Catherine Vincent-Delorme,Shelby Romoser,Nicole Safina,Dimah Saade,James R. Lupski,Daniel G. Calame,David Genevieve,Nicolas Chatron,Caroline Schluth-Bolard,Kenneth A. Myers,William B. Dobyns,Patrick Calvas,Caroline Salmon,Richard Holt,Frances Elmslie,Marc Allaire,Daniil M. Prigozhin,Andre Tremblay,Jacques L. Michaud

GENETICS IN MEDICINE（2023）

引用 3|浏览79
关键词
Dystonia,Global developmental delay,Microphthalmia,Retinoic acid,Retinoic acid receptor beta
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