Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Abstract excerpt

OBJECTIVE: COL4A1 variant causes severe central nervous system (CNS) anomalies, including hydranencephaly. However, the pathogenic mechanism underlying the COL4A1 phenotype remains unclear. Here, we report de novo COL4A1 variants in four Japanese patients with typical or rare CNS involvement and exhibiting diverse phenotypes. METHODS: We identified and enrolled four patients with white matter abnormalities and...

Topics

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• Central Nervous System Diseases
• Cerebral Hemorrhage
• Cerebrovascular Disorders
• Collagen Type IV
• Epilepsy