Autosomal dominant osteopetrosis type II resulting from a <i>de novo</i> mutation in the <i>CLCN7</i> gene: A case report.

Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report.

Song, Xiu-Li; Peng, Li-Yuan; Wang, Dao-Wen; Wang, Hong.

Afiliação

Song XL; Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China.
Peng LY; Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China.
Wang DW; Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China.
Wang H; Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China. alextowh@163.com.

World J Clin Cases ; 10(20): 6936-6943, 2022 Jul 16.

Article em En | MEDLINE | ID: mdl-36051116