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Article

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

Journal of medical genetics - 1 Apr 2012

Khalifa Ola, Imtiaz Faiqa, Allam Rabab, Al-Hassnan Zuhair, Al-Hemidan Amal, Al-Mane Khalid, Abuharb Gheid, Balobaid Ameera, Sakati Nadia, Hyland James, Al-Owain Mohammed

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Identifiers

PMID: 22499343
DOI: 10.1136/jmedgenet-2012-100783

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.PMID 22499343Read ↗

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

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

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

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

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 ↗

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.Semantic proximity Read ↗

A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.Semantic proximity Read ↗

The phenotype of DFNA13/COL11A2.Semantic proximity Read ↗

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

A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.Semantic proximity Read ↗

COL4A1 gene mutation--beyond a vascular syndrome.Semantic proximity Read ↗

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