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

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作者：
Guangxian Yang
Yi Yin
Zhiping Tan
Jian Liu
Xicheng Deng
Yifeng Yang
机构：
[1] Hunan Children’s Hospital,Department of Cardiothoracic Surgery
[2] The Second Xiangya Hospital of Central South University,Department of Cardiovascular Surgery
来源：
BMC Medical Genomics | / 14卷
关键词：
Townes-brocks syndrome; Hearing loss; SALL1 mutation; PTPRQ mutation;
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