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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
Hum Mutat. 2019 Dec;40(12):2414-2429. doi: 10.1002/humu.23898. Epub 2019 Sep 15.
Hum Mutat. 2019.
PMID: 31448843
Free PMC article.
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AA.
Nelson ND, et al. Among authors: dodson lm.
Mol Cell Biol. 2018 May 29;38(12):e00025-18. doi: 10.1128/MCB.00025-18. Print 2018 Jun 15.
Mol Cell Biol. 2018.
PMID: 29581185
Free PMC article.
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Acute myeloid leukemia in a child with familial platelet disorder and a cryptic runx1 intragenic deletion.
Dodson LM, Kurtz KJ, Marcogliese AN, Friend BD, Stevens AM, Fisher KE.
Dodson LM, et al.
Pediatr Hematol Oncol. 2022 Sep;39(6):580-585. doi: 10.1080/08880018.2022.2035028. Epub 2022 Feb 9.
Pediatr Hematol Oncol. 2022.
PMID: 35135432
No abstract available.
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