A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Coffin-Siris syndrome (CSS) is a congenital disorder that is characterized by an absent/hypoplastic fifth distal phalanx, psychomotor developmental delay, and coarse facial features. One of the causative genes, ARID1B (AT-rich interactive domain-containing protein 1B), encodes components of the BAF...

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Detalles Bibliográficos
Autores principales: Sofronova, Viktoriia, Fukushima, Yu, Masuno, Mitsuo, Naka, Mami, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Moriwaki, Takahito, Iwata, Rina, Terawaki, Seigo, Yamanouchi, Yasuko, Otomo, Takanobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314373/
https://www.ncbi.nlm.nih.gov/pubmed/35879281
http://dx.doi.org/10.1038/s41439-022-00203-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314373/
https://www.ncbi.nlm.nih.gov/pubmed/35879281
http://dx.doi.org/10.1038/s41439-022-00203-y

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