Associated Papers
Genetics of progressive multifocal leukoencephalopathy: update on case reports with an inborn error of immunity and risk variants found in drug-linked cases.
Eis PS et al.
Frontiers in Neurology, 2025
40761639 (PubMed )
Supplement: Data_Sheet_1.pdf
A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.
Esmaeilzadeh E et al.
Molecular Genetics & Genomic Medicine, 2024
Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1.
Bhattad S et al.
Frontiers in Immunology, 2024
Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.
Kim BJ et al.
Clinical Genetics, 2022
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M et al.
The Journal of Allergy and Clinical Immunology, 2021
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