Cargando…
Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy
BACKGROUND: Infantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene, encoding...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906051/ https://www.ncbi.nlm.nih.gov/pubmed/35092705 http://dx.doi.org/10.1002/jcla.24253 |