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
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Lecca M et al.
Clinical 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
A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.
De Rose DU et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
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