Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

Warman-Chardon J, Hartley T, Marshall AE, McBride A, Couse M, Macdonald W, Mann MRW, Bourque PR, Breiner A, Lochmüller H, Woulfe J, Sampaio ML, Melkus G, Brais B, Dyment DA, Boycott KM, Kernohan K