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Filtres: Mot-clé is Asphyxiating thoracic dystrophy  [Clear All Filters]
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Faudi E, Brischoux-Boucher E, Huber C, Dabudyk T, Lenoir M, Baujat G, Michot C, Van Maldergem L, Cormier-Daire V, Piard J.  2020.  A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. EUROPEAN JOURNAL OF MEDICAL GENETICS. 63:103823.