A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review
BackgroundThe heterozygous STAG1 gene (OMIM*604358) variants are associated with autosomal dominant intellectual developmental disorder 47, known as mental retardation autosomal dominant 47 (MRD47, OMIM#617635). Although more than 10 STAG1 variants have been reported, functional studies in vitro hav...
Na minha lista:
| Principais autores: | , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2025-10-01
|
| coleção: | Frontiers in Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fped.2025.1648430/full |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|