A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature

• Main Authors: Guibin Bai (Author), Rougang Yuan (Author), Jian Yuan (Author), Yanqin Liu (Author), Shaozhi Zhao (Author), Xinwen Zhang (Author)
• Format: Book
• Published: BMC, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pediatric patient with Coffin-Siris syndrome, aiming...