Cargando…
Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families
Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 6...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7406531/ https://www.ncbi.nlm.nih.gov/pubmed/32248360 http://dx.doi.org/10.1007/s00439-020-02156-0 |