SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature
Abstract Compound heterozygous mutations in SHQ1 have been associated with a rare and severe neurological disorder characterized by global developmental delay (GDD), cerebellar degeneration coupled with seizures, and early-onset dystonia. Currently, only five affected individuals have been documente...
Gardado en:
| Principais autores: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group
2023-02-01
|
| Series: | Human Genome Variation |
| Acceso en liña: | https://doi.org/10.1038/s41439-023-00234-z |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|