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

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

American journal of medical genetics. Part A - 1 Jul 2007

Keren Boris, Suzuki Oscar T, Gérard-Blanluet Marion, Brémond-Gignac Dominique, Elmaleh Monique, Titomanlio Luigi, Delezoide Anne-Lise, Passos-Bueno Maria Rita, Verloes Alain

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 Brain
Share to Brain Diseases
Share to Fetus
Share to Hamartoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Myopia

Share to RNA Splice Sites

Share to Syndrome

Source

Identifiers

PMID: 17546652
DOI: 10.1002/ajmg.a.31784

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.PMID 17546652Read ↗

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.Semantic proximity Read ↗

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.Semantic proximity Read ↗

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’Semantic proximity Read ↗

Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.Semantic proximity Read ↗

Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.Semantic proximity Read ↗

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.Semantic proximity Read ↗

Three cases of molecularly confirmed Knobloch syndrome.Semantic proximity Read ↗

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.Semantic proximity Read ↗

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.Semantic proximity Read ↗

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.Semantic proximity Read ↗

Mutations in collagen 18A1 and their relevance to the human phenotype.Semantic proximity Read ↗

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.Semantic proximity Read ↗

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