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Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F. Vieri M, et al. Best Pract Res Clin Haematol. 2021 Jun;34(2):101282. doi: 10.1016/j.beha.2021.101282. Epub 2021 Jul 1. Best Pract Res Clin Haematol. 2021. PMID: 34404536 Review.
Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early childhood, such as Revesz syndrome, Hoyeraal-Hreidarsson syndrome, and Coats plus disease, to dyskeratosis congenita (DKC) an …
Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early …
Revesz syndrome revisited.
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M. Karremann M, et al. Orphanet J Rare Dis. 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. Orphanet J Rare Dis. 2020. PMID: 33097095 Free PMC article. Review.
BACKGROUND: Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. ...
BACKGROUND: Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in t …
Human telomeres and telomere biology disorders.
Savage SA. Savage SA. Prog Mol Biol Transl Sci. 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. Prog Mol Biol Transl Sci. 2014. PMID: 24993697 Review.
Clinically severe variants of DC are Hoyeraal-Hreidarsson syndrome and Revesz syndrome. Coats plus syndrome joined the spectrum of DC with the discovery that it is caused by mutations in a telomere-capping gene. ...
Clinically severe variants of DC are Hoyeraal-Hreidarsson syndrome and Revesz syndrome. Coats plus syndrome joined the spectru …
An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Niewisch MR, Savage SA. Niewisch MR, et al. Expert Rev Hematol. 2019 Dec;12(12):1037-1052. doi: 10.1080/17474086.2019.1662720. Epub 2019 Sep 10. Expert Rev Hematol. 2019. PMID: 31478401 Free PMC article. Review.
Possible TBD manifestations range from complex multisystem disorders with onset in childhood such as dyskeratosis congenita (DC), Hoyeraal-Hreidarsson syndrome, Revesz syndrome and Coats plus to adults presenting with one or two DC-related features.Areas covered: Th …
Possible TBD manifestations range from complex multisystem disorders with onset in childhood such as dyskeratosis congenita (DC), Hoyeraal-H …
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Ballew BJ, Savage SA. Ballew BJ, et al. Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. Expert Rev Hematol. 2013. PMID: 23782086 Review.
DC is one among the group of clinically and biologically related telomere biology disorders, including Hoyeraal-Hreidarsson syndrome, Revesz syndrome, Coats plus (also known as cranioretinal microangiopathy with calcifications and cysts) and subsets of aplastic anem …
DC is one among the group of clinically and biologically related telomere biology disorders, including Hoyeraal-Hreidarsson syndrome, Rev