Ontology highlight
ABSTRACT:
SUBMITTER: Li ZL
PROVIDER: S-EPMC5075653 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Li Zi-Li ZL Chen Xue X Zhuang Wen-Juan WJ Zhao Wei W Liu Ya-Ni YN Zhang Fang-Xia FX Ha Ruo-Shui RS Wu Jin-Hua JH Zhao Chen C Sheng Xun-Lun XL
International journal of ophthalmology 20161018 10
<h4>Aim</h4>To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome.<h4>Methods</h4>All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the <i>FGFR2</i> gene was employed for mutation identification. Crystal structure analysis was applied to analyze the structural changes associated with the substitution.<h4>Results</h4>All patients presented typical Crouzon features ...[more]