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

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.

American journal of medical genetics. Part A - 1 Aug 2021

Royer-Bertrand Beryl, Cisarova Katarina, Niel Bütschi Florence, Foletti Giovanni, Guinchat Vincent, Tran Christel, Superti-Furga Andrea, Good Jean-Marc

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Facies
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Intellectual Disability

Share to Loss of Function Mutation

Share to Repressor Proteins

Share to Seizures

Source

Identifiers

PMID: 34018673
DOI: 10.1002/ajmg.a.62343

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.PMID 34018673Read ↗

Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.Semantic proximity Read ↗

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.Semantic proximity Read ↗

A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability.Semantic proximity Read ↗

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.Semantic proximity Read ↗

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsSemantic proximity Read ↗

Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly.Semantic proximity Read ↗

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.Semantic proximity Read ↗

Vitamin B5 improves TANGO2 gene mutations associated defectsSemantic proximity Read ↗

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.Semantic proximity Read ↗

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Semantic proximity Read ↗

Clinical phenotype associated with variants in TANGO2: A case study.Semantic proximity Read ↗

Unraveling autism.Semantic proximity Read ↗

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