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Article

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

European journal of human genetics : EJHG - 1 Aug 2012

Verbeek Elly, Meuwissen Marije E C, Verheijen Frans W, Govaert Paul P, Licht Daniel J, Kuo Debbie S, Poulton Cathryn J, Schot Rachel, Lequin Maarten H, Dudink Jeroen, Halley Dicky J, de Coo René I F, den Hollander Jan C, Oegema Renske, Gould Douglas B, Mancini Grazia M S

Abstract excerpt

Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV collagen alpha-1 (COL4A1). Mice harbouring mutations in either Col4a1 or Col4a2 suffer from porencephaly, hydrocephalus, cerebral...

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Identifiers

PMID: 22333902
DOI: 10.1038/ejhg.2012.20
PMCID: PMC3400734

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22333902-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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