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Article

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.

Pediatric neurology - 1 Jan 2017

Durrani-Kolarik Shaheen, Manickam Kandamurugu, Chen Bernadette

Abstract excerpt

BACKGROUND: COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic or cause devastating disease. Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal...

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Collagen Type IV
DNA Mutational Analysis
Eye Abnormalities
Infant, Newborn
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

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PMID: 28043398
DOI: 10.1016/j.pediatrneurol.2016.04.010

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