Associated Papers
Hearing loss occurs prior to thrombocytopenia in both mice and humans with DFNA1.
Kurasawa S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.
Kim BJ et al.
Clinical Genetics, 2022
Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1).
Lakha R et al.
Biochemistry, 2021
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.
Kim BJ et al.
Journal of Medical Genetics, 2019
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