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

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.

Journal of cellular and molecular medicine - 1 Jan 2020

Zhang Rui, Chen Shaoyun, Han Peng, Chen Fangfang, Kuang Shan, Meng Zhuo, Liu Junnian, Sun Ruliang, Wang Zhiwei, He Xiaohong, Li Yong, Guan Yuanning, Yue Zhengfang, Li Chen, Kumar Dey Subrata, Zhu Yuanfang, Banerjee Santasree

Abstract excerpt

Meckel syndrome (MKS) is a pre- or perinatal multisystemic ciliopathic lethal disorder with an autosomal recessive mode of inheritance. Meckel syndrome is usually manifested with meningo-occipital encephalocele, polycystic kidney dysplasia, postaxial polydactyly and hepatobiliary ductal plate malformation. Germline variants in CEP290 cause MKS4. In this study, we investigated a 35-years-old Chinese female who was...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Ciliary Motility Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Encephalocele

Share to Polycystic Kidney Diseases

Share to Retinitis Pigmentosa

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 31840411
DOI: 10.1111/jcmm.14887
PMCID: PMC6991682

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.PMID 31840411Read ↗

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.Semantic proximity Read ↗

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Semantic proximity Read ↗

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Semantic proximity Read ↗

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.Semantic proximity Read ↗

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.Semantic proximity Read ↗

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.Semantic proximity Read ↗

Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses.Semantic proximity Read ↗

Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.Semantic proximity Read ↗

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.Semantic proximity Read ↗

[Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene].Semantic proximity Read ↗

Novel homozygous mutations in TXNDC15 causing Meckel syndrome.Semantic proximity Read ↗

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.Semantic proximity Read ↗

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