Associated Papers
Subsequent Primary Hematologic Malignancies in a 21-Year-Old Retinoblastoma Survivor: Case Report Study.
Karimi E et al.
Cancer Reports (hoboken, N.j.), 2025
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 homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.
Abdel-Salam GMH et al.
Journal of Human Genetics, 2025
Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant
Bayramoğlu SE et al.
Turkish Journal of Ophthalmology, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M et al.
American Journal of Human Genetics, 2023
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T et al.
American Journal of Human Genetics, 2021
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