The identification of a novel frameshift insertion mutation in the <i>EXT1</i> gene in a Chinese family with hereditary multiple exostoses.

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses.

Liu, Wanlu; Shi, Xinwei; Li, Yuqi; Qiao, Fuyuan; Wu, Yuanyuan.

Afiliação

Liu W; Department of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Shi X; Department of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Li Y; Department of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Qiao F; Department of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Wu Y; Department of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.

Clin Case Rep ; 10(9): e6298, 2022 Sep.

Article em En | MEDLINE | ID: mdl-36101782