Ontology highlight
ABSTRACT:
SUBMITTER: Luo M
PROVIDER: S-EPMC6900356 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Molecular genetics & genomic medicine 20191018 12
<h4>Background</h4>Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid-hindbrain malformation called the "molar tooth sign" on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative genes of JS.<h4>Methods</h4>Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT-PCR and ...[more]