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Article

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

American journal of medical genetics. Part A - 1 Oct 2014

Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan A Al-, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain M Al-

Abstract excerpt

Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Characteristic features of Marshall syndrome include midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Deletions, insertions, splice site, and missense...

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PMID: 25073711
DOI: 10.1002/ajmg.a.36681

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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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.PMID 25073711Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].Semantic proximity Read ↗

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrumSemantic proximity Read ↗

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.Semantic proximity Read ↗

Marshall syndrome associated with a splicing defect at the COL11A1 locus.Semantic proximity Read ↗

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.Semantic proximity Read ↗

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotypeSemantic proximity Read ↗

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.Semantic proximity Read ↗

Autosomal Recessive Stickler Syndrome.Semantic proximity Read ↗

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.Semantic proximity Read ↗

Marshall syndrome.Semantic proximity Read ↗

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.Semantic proximity Read ↗

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