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

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

American journal of medical genetics. Part A - 1 Nov 2010

Mahajan Vinit B, Olney Ann Haskins, Garrett Penny, Chary Ajit, Dragan Ecaterina, Lerner Gary, Murray Jeffrey, Bassuk Alexander G

Abstract excerpt

Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1 revealed a homozygous, 2-bp deletion (c3514-3515delCT) in exon 41, which leads to abnormal...

Read the complete abstract on PubMed

Topics

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

Share to Encephalocele
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family

Share to Infant

Share to Magnetic Resonance Imaging

Share to Precursor Cell Lymphoblastic Leukemia-Lymphoma

Share to Retinal Degeneration

Share to Retinal Detachment

Source

Open in PubMed Open full text

Identifiers

PMID: 20799329
DOI: 10.1002/ajmg.a.33621
PMCID: PMC2965270

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.PMID 20799329Read ↗

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.Semantic proximity Read ↗

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

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.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 ↗

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.Semantic proximity Read ↗

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

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).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 ↗

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.Semantic proximity Read ↗

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch SyndromeSemantic proximity Read ↗

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

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