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

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

Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnormalities. A team from Japan led by Takanobu Otomo of...

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Bibliographic Details
Main Authors: Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo
Format: Article
Language:English
Published: Nature Publishing Group 2022-07-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00203-y

Internet

https://doi.org/10.1038/s41439-022-00203-y

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