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

PLXNA2 as a candidate gene in patients with intellectual disability.

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

Altuame Fadie D, Shamseldin Hanan E, Albatti Turki H, Hashem Mais, Ewida Nour, Abdulwahab Firdous, Alkuraya Fowzan S

Abstract excerpt

Intellectual disability (ID) is one of the most common disabilities in humans. In an effort to contribute to the expanding genetic landscape of ID, we describe a novel autosomal recessive ID candidate gene. Combined autozygome/exome analysis was performed in two unrelated consanguineous families with ID. Each of the two families had a novel homozygous likely deleterious variant in PLXNA2 and displayed the core...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Exome
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Intellectual Disability

Share to Mice, Knockout

Share to Nerve Tissue Proteins

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 34327814
DOI: 10.1002/ajmg.a.62440

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

PLXNA2 as a candidate gene in patients with intellectual disability.PMID 34327814Read ↗

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.Semantic proximity Read ↗

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.Semantic proximity Read ↗

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders.Semantic proximity Read ↗

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?Semantic proximity Read ↗

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.Semantic proximity Read ↗

Expanding the genetic heterogeneity of intellectual disability.Semantic proximity Read ↗

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.Semantic proximity Read ↗

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.Semantic proximity Read ↗

A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1.Semantic proximity Read ↗

A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.Semantic proximity Read ↗

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.Semantic proximity Read ↗

Copy number variants in neurexin genes: phenotypes and mechanisms.Semantic proximity Read ↗

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