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
Zdroj: In European Journal of Medical Genetics April 2020 63(4)
Databáze: ScienceDirect