Ontology highlight
ABSTRACT:
SUBMITTER: Xiong Z
PROVIDER: S-EPMC3602076 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Xiong Zhimin Z Lu Yanmei Y Xue Jinjie J Luo Sanchuan S Xu Xiaojuan X Zhang Lusi L Peng Hao H Li Wei W Chen Dengming D Hu Zhengmao Z Xia Kun K
Journal of medical case reports 20130308
<h4>Introduction</h4>Hutchinson-Gilford progeria syndrome is a rare pediatric genetic syndrome with an incidence of one per eight million live births. The disorder is characterized by premature aging, generally leading to death due to myocardial infarction or stroke at approximately 13.4 years of age. The genetic diagnosis and special clinical manifestation in two Han Chinese siblings observed at our clinic for genetic counseling are described in this report. We screened the LMNA gene in these t ...[more]