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...
Na minha lista:
| Principais autores: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2025-11-01
|
| coleção: | Frontiers in Genetics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1699834/full |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|