A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder

SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findings of a complex inherited neurodevelopmental disor...

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Detalles Bibliográficos
Autores principales: Ammous, Zineb, Rawlins, Lettie E., Jones, Hannah, Leslie, Joseph S., Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A., Ames, Ryan M., Cross, Harold E., Puffenberger, Erik G., Harries, Lorna, Baple, Emma L., Crosby, Andrew H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496849/
https://www.ncbi.nlm.nih.gov/pubmed/34570759
http://dx.doi.org/10.1371/journal.pgen.1009803

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496849/
https://www.ncbi.nlm.nih.gov/pubmed/34570759
http://dx.doi.org/10.1371/journal.pgen.1009803

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