Ontology highlight
ABSTRACT:
SUBMITTER: Yu D
PROVIDER: S-EPMC5728844 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Medicine 20171201 49
<h4>Instruction</h4>Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynostosis. Karyotyping by both G-bind staining and array-based DNA hybridization identified microdu ...[more]