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

BMC Medical Genomics (2021) - Comment
pubmed: 33478437 doi: 10.1186/s12920-021-00871-9 issn: 1755-8794

Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng, Yifeng Yang