Article
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
Gubana Francesca, Christov Christo, Coste Thibault, Tournier-Lasserve Elisabeth, Benachi Alexandra, Fallet-Bianco Catherine, Encha-Razavi Ferechte, Martinovic Jelena
Abstract excerpt
BACKGROUND: Increasing number of mutations responsible for vascular lesions, leading to ischemic or hemorrhagic stroke in young adults, has been identified in the recent years. It has been demonstrated in both mice and humans, that mutations in COL4A1 gene promote cerebral hemorrhages. In humans, both adults and children may be affected, and the spectrum has been broadened recently to neonates and fetuses....
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