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

A novel genomic mutation in ADNP leading to intellectual disability.

European journal of human genetics : EJHG - 1 Aug 2023

Gozes Illana

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 Autism Spectrum Disorder
Share to Genomics
Share to Homeodomain Proteins
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nerve Tissue Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 37217629
DOI: 10.1038/s41431-023-01387-9
PMCID: PMC10400532

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel genomic mutation in ADNP leading to intellectual disability.PMID 37217629Read ↗

Mutation in the ADNP gene associated with Noonan syndrome features.Semantic proximity Read ↗

Loss of function of ADNP by an intragenic inversion.Semantic proximity Read ↗

50 Years Ago in TheJournalofPediatrics: Syndromic Intellectual Disability: A Never-Ending Genomic Odyssey.Semantic proximity Read ↗

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophySemantic proximity Read ↗

Noncoding Gene Identified as Relatively Common Cause of Intellectual Disability.Semantic proximity Read ↗

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Semantic proximity Read ↗

Loss of function of ADNP by an intragenic inversion: towards an out-of frame start codon mechanismSemantic proximity Read ↗

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.Semantic proximity Read ↗

Sneddon syndrome associated with two novel ADA2 gene mutations.Semantic proximity Read ↗

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.Semantic proximity Read ↗

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.Semantic proximity Read ↗

Novel human pathological mutations.Semantic proximity Read ↗

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