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2020 | 1 |
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PubMed (cited) for id: 617763
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Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
Hum Mol Genet. 2020 Mar 13;29(4):541-553. doi: 10.1093/hmg/ddz251.
Hum Mol Genet. 2020.
PMID: 31628467
Free PMC article.
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A.
Di Donato N, et al.
J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3.
J Med Genet. 2016.
PMID: 26843489
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