Article
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Oct 2021
Zhang Cheng, Sun Zhenchao, Xu Lulu, Che Fengyuan, Liu Shiguo
Abstract excerpt
Joubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.