Neurology Genetics • Vol 9 • No 5
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
September 2023 • Jodi Warman‐Chardon, Taila Hartley, Aren E. Marshall, Arran McBride, Madeline Couse, William MacDonald, Mellissa R.W. Mann, Pierre R. Bourque, Ari Br…
Our findings associate <i>SOX8</i> variants with this novel condition, highlight how complex genome regulation can complicate novel disease-gene identification, and provide insight into the molecular pathogenesis of this disease.