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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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20799329-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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

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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 ↗

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