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Article

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

Current opinion in neurology - 1 Feb 2011

Vahedi Katayoun, Alamowitch Sonia

Abstract excerpt

PURPOSE OF REVIEW: This review dsecribes the clinical spectrum of a newly identified disorder related to COL4A1 gene mutations. COL4A1 encodes type IV collagen α1 chain, a crucial component of nearly all basement membrane including vasculature, renal glomerule and ocular structures. RECENT FINDINGS: The human phenotypes are extremely variable between patients and between families, with disease onset as early as...

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PMID: 21157337
DOI: 10.1097/WCO.0b013e32834232c6

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Related research

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Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.PMID 21157337Read ↗

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Semantic proximity Read ↗

Main features of COL4A1-COL4A2 related cerebral microangiopathiesSemantic proximity Read ↗

[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene].Semantic proximity Read ↗

Role of COL4A1 in Basement-Membrane Integrity and Cerebral Small-Vessel Disease. The COL4A1 Stroke SyndromeSemantic proximity Read ↗

Progressive cerebral atrophies in three children with COL4A1 mutations.Semantic proximity Read ↗

De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.Semantic proximity Read ↗

Expanding the phenotype of COL4A1-related disorders-Four novel variants.Semantic proximity Read ↗

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.Semantic proximity Read ↗

Late-onset intracerebral hemorrhage associated with COL4A1 variants: clinical and genetic perspectives.Semantic proximity Read ↗

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.Semantic proximity Read ↗

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.Semantic proximity Read ↗

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.Semantic proximity Read ↗

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