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Article

Fetal intracerebral hemorrhage and cataract: think COL4A1.

Journal of perinatology : official journal of the California Perinatal Association - 1 Jan 2014

Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, Boussion F, Delorme B, Tournier-Lasserve E, Bonneau D

Abstract excerpt

The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephaly. Recently, several authors have reported mutations in COL4A1 as a Mendelian cause o...

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Identifiers

PMID: 24374867
DOI: 10.1038/jp.2013.135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24374867-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Fetal intracerebral hemorrhage and cataract: think COL4A1.PMID 24374867Read ↗

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