| Autor: |
Fatma Tuba YILDIRIM, Elif Benderlioğlu, Dilek Kaçar, Neşe Yaralı |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Hematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S28-S29 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2531-1379 |
| DOI: |
10.1016/j.htct.2021.10.1000 |
| Popis: |
Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency, fevers and developmental delay at varying degrees. Here we present a 10-year-old girl with periodic fever, retinitis pigmentosa, B cell deficiency, seizures and transfusion free sideroblastic anemia due to compound heterozygote TRNT1 mutation. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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