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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. Among authors: schallner j. 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
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: schallner j. PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018. PLoS One. 2018. PMID: 30091983 Free PMC article.
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: schallner j. PLoS One. 2020 Sep 24;15(9):e0239959. doi: 10.1371/journal.pone.0239959. eCollection 2020. PLoS One. 2020. PMID: 32970766 Free PMC article.
30 results