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Acute myeloid leukemia in a child with familial platelet disorder and a cryptic runx1 intragenic deletion.
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.
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AA.
Dodson LM, et al.
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.
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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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