Browsing Institutt for klinisk medisin by Author "Xia, Vivian"

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  • Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness 
    Slavotinek, Anne; Misceo, Doriana; Htun, Stephanie; Mathisen, Linda; Frengen, Eirik; Foreman, Michelle; Hurtig, Jennifer E.; Enyenihi, Liz; Sterrett, Maria C.; Leung, Sara W.; Schneidman-Duhovny, Dina; Estrada-Veras, Juvianee; Duncan, Jacque L.; Haaxma, Charlotte A.; Kamsteeg, Erik-Jan; Xia, Vivian; Beleford, Daniah; Si, Yue; Douglas, Ganka; Treidene, Hans Einar; van Hoof, Ambro; Fasken, Milo B.; Corbett, Anita H. (Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2020)
    Abstract The RNA exosome is an essential ribonuclease complex required for processing and/or degradation of both coding and non-coding RNAs. We identified five patients with biallelic variants in EXOSC5, which ...