Associated Papers
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.
Alshammari MJ et al.
Human Genetics, 2024
Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC).
Kozak I et al.
Eye and Brain, 2024
Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease.
Abdallah Moady T et al.
Frontiers in Pediatrics, 2023
Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene.
Xu M et al.
Frontiers in Genetics, 2022
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Akawi NA et al.
Human Mutation, 2013
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