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

2020-04-02

Abstract excerpt

The RNA exosome is an essential ribonuclease complex involved in the processing and degradation of both coding and noncoding RNAs. We present three patients with biallelic variants in EXOSC5 , which encodes a structural subunit of the RNA exosome. The common clinical features of these patients comprise failure to thrive, short stature, feeding difficulties, developmental delays that affect motor skills, hypotonia...

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Literature Corpus work
2dff2b22-8381-575b-ae67-bf314c1d8759
DOI
10.1101/2020.04.01.839274
Open publication

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