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...

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Egile Nagusiak:	Cuicui Jiang, Ke Wu, Ying Zhou
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Frontiers Media S.A. 2025-10-01
Saila:	Frontiers in Pediatrics
Gaiak:	intellectual disability STAG1 gene haploinsufficiency frameshift functional studies
Sarrera elektronikoa:	https://www.frontiersin.org/articles/10.3389/fped.2025.1648430/full
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!