Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Molecular genetics & genomic medicine - 1 Jun 2021

Zhang Xiujuan, Shen Yue, Li Ping, Cai Ruikun, Lu Chao, Li Qian, Chen Cuixia, Yu Yufei, Cheng Tingting, Wang Xian, Luo Minna, Cao Muqing, Cao Zongfu, Ma Xu

Abstract excerpt

BACKGROUND: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain-hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However, the correlation between genotype and phenotype has not been elucidated due to the limited number of patients available. METHODS: In this study, we...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Cerebellum

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Frameshift Mutation

Share to Heterozygote

Share to Kidney Diseases, Cystic

Share to Membrane Proteins

Share to Retina

Source

Open in PubMed Open full text

Identifiers

PMID: 33822487
DOI: 10.1002/mgg3.1682
PMCID: PMC8222854

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.PMID 33822487Read ↗

Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.Semantic proximity Read ↗

Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.Semantic proximity Read ↗

Clinical and genetic characteristics of 36 children with Joubert syndromeSemantic proximity Read ↗

Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome.Semantic proximity Read ↗

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.Semantic proximity Read ↗

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.Semantic proximity Read ↗

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.Semantic proximity Read ↗

Novel variants identified in five Chinese families with Joubert Syndrome: a case report.Semantic proximity Read ↗

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.Semantic proximity Read ↗

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.Semantic proximity Read ↗

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Semantic proximity Read ↗

Genotypes and phenotypes of Joubert syndrome and related disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.