| Autor: |
Harrigan, Amye M., MacDonald, Shelley, Crooks, Bruce N., Dyack, Sarah, Trottier, Amy M. |
| Zdroj: |
Blood; November 2020, Vol. 136 Issue: 1, Number 1 Supplement 1 p11-11, 1p |
| Abstrakt: |
TERCvariant telomere biology disorders are a rare and heterogenous group of disorders that arise from germline variants in TERC, a gene that encodes for the RNA component of telomerase. Variants in TERClead to accelerated telomere attrition and can manifest as a wide array of clinical phenotypes affecting multiple organ systems. In this case series, we aim to add to the literature describing TERCvariant telomere biology disorders by reporting cases from two unrelated families from Eastern Canada, one of whom was found to have a novel germline TERCvariant and the other had a unique phenotypic presentation of previously described TERCvariant. |
| Databáze: |
Supplemental Index |
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