Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Oncology,Hematology
Link
https://link.springer.com/content/pdf/10.1007/s11899-023-00713-8.pdf
Reference96 articles.
1. Kocak H, Ballew B, Bisht K, Eggebeen R, Hicks B, Suman S, et al. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TTP1. Genes Dev. 2014;39(19):2090–102. https://doi.org/10.1101/gad.248567.114.
2. Guo Y, Kartawinata M, Li J, Pickett H, Teo J, Kilo T, Barbaro P, Keating B, et al. Inherited bone marrow failure associated with germline mutation in ACD, the gene encoding telomere protein TPP1. Blood. 2014;124(18):2767–74. https://doi.org/10.1182/blood-2014-08-596445.
3. Polvi A, Linnankivi T, Kivela T, Herva R, Keating J, Makitie O, et al. Mutations inCTC1, Encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012;90(3):540–9. https://doi.org/10.1016/j.ajhg.2012.02.002.
4. Anderson B, Kasher P, Mayer J, Szynkiewicz M, Jenkinson E, Bhaskar S, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012;44(3):338–42. https://doi.org/10.1038/ng.1084.
5. Keller R, Gagne K, Usmani G, Asourian G, Williams D, Hofman I, Agarwal S. CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer. 2012;59(2):311–4. https://doi.org/10.1002/pbc.24193.
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