Article
Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.
Pediatric neurology - 1 Mar 2026
Guberman Guido, Scala Marcello, Striano Pasquale, Zara Federico, Severino Mariasavina, Argilli Emanuela, Sherr Elliott H, Myers Kenneth A
Abstract excerpt
COL18A1 encodes the α1 chain of collagen type XVIII, a nonfibrillar collagen expressed in vascular and epithelial basement membranes. Biallelic pathogenic variants in COL18A1 have been associated with Knobloch syndrome, a condition defined by ophthalmologic abnormalities, though patients often have some or all of brain malformations, epilepsy, and intellectual disability. We reviewed our research and clinical...
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