A Case Series of TERC Variant Telomere Biology Disorders in Unrelated Families From Atlantic Canada

TERC variant telomere biology disorders (TBDs) are a rare, heterogenous group of disorders that arise from germline variants in TERC, a gene that encodes for the RNA component of telomerase. Variants in TERC lead to accelerated telomere attrition and can manifest as many different phenotypes. In thi...

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Detalles Bibliográficos
Autores principales: Harrigan, Amye M., MacDonald, Shelley, Crooks, Bruce, Dyack, Sarah, Trottier, Amy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256918/
https://www.ncbi.nlm.nih.gov/pubmed/34267850
http://dx.doi.org/10.14740/jh826

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256918/
https://www.ncbi.nlm.nih.gov/pubmed/34267850
http://dx.doi.org/10.14740/jh826

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