Clinical and molecular study of a cohort of 79 patients with a pathogenic variation in GDF5 gene and review of the literature
William Dufour,Fabienne Escande,Anne-Sophie Jourdain,Odile Boute,Anne Dieux, Carherine Vincent-Delorme,Muriel Holder,Francesca Forzano,Laurence Faivre,Christel Thauvin,Marion Gerard,David Genevieve,Marjolaine Willems,Bertrand Isidor,Chloe Quelin,Sylvie Odent,Valerie Cormier-Daire,Genevieve Baujat,Gilles Morin,Lyse Ruaud,Yline Capri,Alice Gold-Enberg,Yves Alembik,Nicole Revencu,Bianca Ethel Gutierrez-Amavizca,Nicolas Chassaing,Fanny Laffargue,Christine Francannet,Tiffany Busa,Veronique Paquis,Sylvie Manouvrier,Florence Petit EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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