Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

• Autores principales: Guangxian Yang (Autor), Yi Yin (Autor), Zhiping Tan (Autor), Jian Liu (Autor), Xicheng Deng (Autor), Yifeng Yang (Autor)
• Formato: Libro
• Publicado: BMC, 2021-01-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as...