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Article

Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.

Clinical neurology and neurosurgery - 1 Feb 2023

Nicita Francesco, Aiello Chiara, Carboni Alessia, Longo Daniela, Bertini Enrico, Travaglini Lorena

Abstract excerpt

Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by prenatal-neonatal intracerebral hemorrhage with porencephaly and by periventricular leukomalacia with calcifications, corresponding clinical diagnoses of cerebral palsy mimics. Axenfeld-Rieger syndrome with leukoencephalopathy, HANAC syndrome, young- and...

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Identifiers

PMID: 36603335
DOI: 10.1016/j.clineuro.2022.107584

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