Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Sarah B. Pierce; Tom Walsh; Karen M. Chisholm; Ming K. Lee; Anne M. Thornton; Agata Fiumara; John M. Opitz; Ephrat Levy-Lahad; Rachel E. Klevit; Mary-Claire King
- 作者Sarah B. Pierce; Tom Walsh; Karen M. Chisholm; Ming K. Lee; Anne M. Thornton; Agata Fiumara; John M. Opitz; Ephrat Levy-Lahad; Rachel E. Klevit; Mary-Claire King
- 卷第87卷
- 期第2期
- 印刷ISSN0002-9297
- 电子ISSN1537-6605
- 文件大小537.93KB
- 发表时间2010
- DOI10.1016/j.ajhg.2010.07.007
- 页码282-288