Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study | Zendy

Congcong Guo | Zendy; Zhenni Zhao | Zendy; Denghui Chen | Zendy; Shuxiang He | Zendy; Nannan Sun | Zendy; Zhongwen Li | Zendy; Jiafan Liu | Zendy; Dandan Zhang | Zendy; Jiamin Zhang | Zendy; Jianlong Li | Zendy; Miao Zhang | Zendy; Jian Ge | Zendy; Xing Liu | Zendy; Xiaoling Zhang | Zendy; Zhigang Fan | Zendy

Open Access

Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study

Author(s) -

Congcong Guo,

Zhenni Zhao,

Denghui Chen,

Shuxiang He,

Nannan Sun,

Zhongwen Li,

Jiafan Liu,

Dandan Zhang,

Jiamin Zhang,

Jianlong Li,

Miao Zhang,

Jian Ge,

Xing Liu,

Xiaoling Zhang,

Zhigang Fan

Publication year - 2019

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.18-26275

Subject(s) - proband , genetics , biology , mendelian inheritance , mutation , frameshift mutation , exome sequencing , gene

Nanophthalmos is a rare genetic disorder commonly characterized by a short axial length (AL) and severe hyperopia. Mutations that have been identified through Mendelian genetic analysis can only explain a fraction of nanophthalmic cases. We investigate the clinically relevant genetic variants in nanophthalmos by whole-genome sequencing (WGS), including de novo mutations (DNMs) and inherited mutations.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research