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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 familiesFirst International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers
inserm-00752961v1
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsNature Communications, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Journal articles
hal-01914333v1
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Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasiaJournal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩
Journal articles
hal-03705297v1
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