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Dubail, Johanne1; Brunelle, Perrine1; Baujat, Geneviève1; Huber, Céline1; Doyard, Mathilde1; Michot, Caroline1; Chavassieux, Pascale2; Khairouni, Abdeslam3; Topouchian, Vicken4; Monnot, Sophie1; Koumakis, Eugénie1,5; Cormier‐Daire, Valérie1
Homozygous loss‐of‐function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta
J Bone Miner Res. August 2020;​35(8):​1470-1480