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

Jodi Warman-Chardon Taila Hartley Aren Elizabeth MarshallArran McBrideMadeline CouseWilliam MacdonaldMellissa R W Mann Pierre Raymond Bourque Thanh B Nguyen Hanns Lochmüller John M Woulfe Marcos Loreto Sampaio Gerd Melkus Bernard Brais David A Dyment Kym M BoycottKristin Kernohan

Published in: Neurology. Genetics (2023)

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.

Keyphrases

intellectual disability
copy number
autism spectrum disorder
genome wide
stem cells
oxidative stress
transcription factor
gene expression
dna methylation
single molecule
myasthenia gravis
genome wide analysis