Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.,Molecular Genetics & Genomic Medicine

当前位置： X-MOL 学术 › Mol. Genet. Genomic Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-01 , DOI: 10.1002/mgg3.1375
Angèle Tingaud-Sequeira ₁ , Aurélien Trimouille _{1,

2} , Sandrine Marlin _{3,

4} , Estelle Lopez ₁ , Marie Berenguer ₁ , Souad Gherbi ₃ , Benoit Arveiler _{1,

2} , Didier Lacombe _{1,

2} , Caroline Rooryck _{1,

2}

Affiliation

The Oculo‐Auriculo‐Vertebral Spectrum (OAVS) or Goldenhar Syndrome is an embryonic developmental disorder characterized by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical heterogeneity of this spectrum and its incomplete penetrance limited the molecular diagnosis. In this study, we describe a novel causative gene, ZYG11B.

中文翻译：

ZYG11B 的功能和遗传分析为其参与 OAVS 提供了证据。

眼耳椎谱 (OAVS) 或 Goldenhar 综合征是一种胚胎发育障碍，其特征是与耳廓、眼部和脊椎畸形相关的半面部微小。该谱的临床异质性及其不完全外显率限制了分子诊断。在这项研究中，我们描述了一种新的致病基因， ZYG11B 。

更新日期：2020-08-01

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南11