A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome

• Main Authors: Yunqian Chi (Author), Yi Yao (Author), Futao Sun (Author), Wenhong Zhang (Author), Zihan Zhang (Author), Yunhe Wang (Author), Wei Hao (Author)
• Format: Book
• Published: BMC, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristi...