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Autor:
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A. Lakhani, Weizhen Ji, Laurie Steiner, Julien Marcadier, Philip R. Jansen, Laura A. van de Pol, Johanna M. van Hagen, Alvaro Serrano Russi, Gwenaël Le Guyader, Magnus Nordenskjöld, Ann Nordgren, Britt-Marie Anderlid, Julie Plaisancié, Corinna Stoltenburg, Denise Horn, Anne Drenckhahn, Fadi F. Hamdan, Mathilde Lefebvre, Tania Attie-Bitach, Peggy Forey, Vasily Smirnov, Françoise 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 Geneviève, Nicolas Chatron, Caroline Schluth-Bolard, Kenneth A. Myers, William B. Dobyns, Patrick Calvas, Caroline Salmon, Richard Holt, Frances Elmslie, Marc Allaire, Daniil M. Prigozhin, André Tremblay, Jacques L. Michaud
Publikováno v:
The DDD study 2023, ' Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta ', Genetics in Medicine, vol. 25, no. 8, 100856 . https://doi.org/10.1016/j.gim.2023.100856
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkins
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkins
Purpose: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental delay with spasticity and/or dystonia. He