Associated Papers
Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.
Ding Y et al.
Bmc Nephrology, 2024
Regulation of formin INF2 and its alteration in INF2-linked inherited disorders.
Labat-de-Hoz L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
39586895 (PubMed )
Supplement: 18_2024_5499_MOESM3_ESM.xlsx › Table-S1
INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Park JH et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
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