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

Human genetic disorders of axon guidance.

Cold Spring Harbor perspectives in biology - 1 Mar 2010

Engle Elizabeth C

Abstract excerpt

This article reviews symptoms and signs of aberrant axon connectivity in humans, and summarizes major human genetic disorders that result, or have been proposed to result, from defective axon guidance. These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, albinism, congenital fibrosis of the extraocular...

Read the complete abstract on PubMed

Topics

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

Share to Axons
Share to Developmental Biology
Share to Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Kallmann Syndrome

Share to Ligands

Share to Muscles

Share to Nervous System Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 20300212
DOI: 10.1101/cshperspect.a001784
PMCID: PMC2829956

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

Human genetic disorders of axon guidance.PMID 20300212Read ↗

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to ManagementSemantic proximity Read ↗

The genetics of axonal transport and axonal transport disorders.Semantic proximity Read ↗

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.Semantic proximity Read ↗

A commentary on Axon guidance pathway genes and Parkinson's disease.Semantic proximity Read ↗

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.Semantic proximity Read ↗

A recurrent MCF2 variant which disrupts DCC binding leads to congenital mirror movements and corpus callosum agenesisSemantic proximity Read ↗

A genetic screen identifies genes essential for development of myelinated axons in zebrafish.Semantic proximity Read ↗

Midline axon guidance and human genetic disorders.Semantic proximity Read ↗

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasiasSemantic proximity Read ↗

Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders.Semantic proximity Read ↗

Axonopathy is a compounding factor in the pathogenesis of Krabbe diseaseSemantic proximity Read ↗

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Semantic proximity Read ↗

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