Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders
Heterozygous missense variants in the KIF21A gene are best known to cause congenital fibrosis of the extraocular muscles. A recent report by Borja et al., 2025 suggested that the KIF21A gene may also be associated with syndromic phenotype, including peripheral neuropathy, brain malformations, and st...
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| Auteurs principaux: | , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Frontiers Media S.A.
2025-11-01
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| Collection: | Frontiers in Genetics |
| Sujets: | |
| Accès en ligne: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1699834/full |
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