Ontology highlight
ABSTRACT:
SUBMITTER: Fan Q
PROVIDER: S-EPMC6425703 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Fan Qi Q Li Dan D Cai Lei L Qiu Xiaodi X Zhao Zhennan Z Wu Jihong J Yang Jin J Lu Yi Y
BMC medical genetics 20190320 1
<h4>Background</h4>Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract.<h4>Methods</h4>The proband and her parents underwent full ophthalmological examinations. DNA was extracted from the participants' peripheral venous blood. The mutation was identified via panel-based next-generation sequencing (NGS) and was validated via ...[more]