Associated Papers
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
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.
Chiereghin C et al.
Cells, 2022
35681420 (PubMed )
Supplement: cells-11-01726-s001.zip › cells-1661972-supplementary.xlsx › Table_S2_other_phenotypes
Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.
Al Farsi T et al.
Frontiers in Immunology, 2022
Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case.
Esmaeilzadeh H et al.
Case Reports in Genetics, 2022
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M et al.
The Journal of Allergy and Clinical Immunology, 2021
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Neuhaus C et al.
Clinical Genetics, 2017
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Al-Maawali A et al.
American Journal of Medical Genetics. Part A, 2016
Select a paper to view details