Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

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 encodes a structural subunit of the RNA exosome. The clinical features of these patients include fa...

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Main Authors: 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
Format: Text
Language:English
Published: Oxford University Press 2020
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC7399534/
https://pubmed.ncbi.nlm.nih.gov/32504085
http://dx.doi.org/10.1093/hmg/ddaa108
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https://pmc.ncbi.nlm.nih.gov/articles/PMC7399534/
https://pubmed.ncbi.nlm.nih.gov/32504085
http://dx.doi.org/10.1093/hmg/ddaa108

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