Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
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DOI: 10.1093/hmg/ddz251
Abstract: Missense mutations in the RNA exosome component Exosome Component 2 (EXOSC2), also known as Ribosomal RNA-processing Protein 4 (RRP4), were recently identified in two unrelated families with a novel syndrome known as Short stature, Hearing… read more here.
Keywords: genomic studies; shrf; pathogenesis; fly rrp4 ... See more keywords