Deletions and de novo mutations of <i>SOX11</i> are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Abstract excerpt

BACKGROUND: SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. METHODS: We used array based comparative genomic hybridisation and trio exome...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromatin Remodeling and Cancer
• Share to Genomic variations and chromosomal abnormalities
• Share to Neurofibromatosis and Schwannoma Cases