并且这些变异是一名患者出现佩罗样综合征和心脏异常的根本原因。
and variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.
作者信息
Du Xiaoli, Barnett Cara L, Widmeyer Kimberly M, Wang Xinjian, Brightman Diana S, Noonan Carolee W, Weaver Kathryn N, Hopkin Robert J, Wu Yaning
机构信息
Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.
Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio USA.
出版信息
Clin Case Rep. 2024 Oct 31;12(11):e9537. doi: 10.1002/ccr3.9537. eCollection 2024 Nov.
Recent studies have established an association between variants and Perrault syndrome. In this case report, we present a female patient with Perrault syndrome and cardiomyopathy, resulting from variants in and , respectively.
近期研究已证实某些变异与佩罗特综合征之间存在关联。在本病例报告中，我们呈现了一名患有佩罗特综合征和心肌病的女性患者，其病症分别由[具体基因1]和[具体基因2]的变异所致。
Zotero 插件