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

• 主要な著者: Guangxian Yang (著者), Yi Yin (著者), Zhiping Tan (著者), Jian Liu (著者), Xicheng Deng (著者), Yifeng Yang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...