A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
Autor: | Faudi, Emilien, Brischoux-Boucher, Elise, Huber, Céline, Dabudyk, Thibaud, Lenoir, Marion, Baujat, Geneviève, Michot, Caroline, Van Maldergem, Lionel, Cormier-Daire, Valérie, Piard, Juliette |
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Zdroj: | In European Journal of Medical Genetics April 2020 63(4) |
Databáze: | ScienceDirect |
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