首例因……中的复合杂合变异导致的耳聋-肌张力障碍综合征病例 。 你提供的原文不完整，“in”后面缺少具体内容。
The first case of deafness-dystonia syndrome due to compound heterozygous variants in .
作者信息
Shakir Aamina, Wadley Alexandrea F, Purcarin Gabriela, Wierenga Klaas J
机构信息
University of Oklahoma College of Medicine Oklahoma City Oklahoma.
Section of Genetics Department of Pediatrics University of Oklahoma Health Sciences Center Oklahoma City Oklahoma.
出版信息
Clin Case Rep. 2018 Jul 26;6(9):1815-1817. doi: 10.1002/ccr3.1719. eCollection 2018 Sep.
Abstract
We report the second known family affected by deafness-dystonia syndrome associated with loss of function of . Our patient is compound heterozygous for pathogenic variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.
摘要
我们报告了第二例已知的与功能丧失相关的耳聋-肌张力障碍综合征家系。我们的患者是致病性变异的复合杂合子，而首例报告中的患病兄弟姐妹是纯合子。该病例提供了证据，表明这种新型遗传疾病与常染色体隐性遗传相关。
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Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.
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