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- Title
Previously unreported WRAP53 gene variants in a patient with dyskeratosis congenita.
- Authors
Brailovski, Eugene; Tsui, Hubert; Chen, Yi-Bin; Velsher, Lea; Liu, Jiajia; Buckstein, Rena
- Abstract
We report two novel mutations of the I WRAP53 i gene that were separately inherited from each unaffected parent in a patient with DKC. Dear Editor, Dyskeratosis congenita (DKC) is a genetic disorder caused by abnormally short telomeres which presents with mucocutaenous abnormalities and organ dysfunction [[1]]. She proceeded to enroll in a phase 2 clinical trial investigating a reduced intensity alkylating agent and radiation-free hematopoietic stem cell transplantation regimen for patients with short telomere syndrome (NCT01659606).
- Subjects
GENETIC variation; POSTERIOR leukoencephalopathy syndrome
- Publication
Annals of Hematology, 2022, Vol 101, Issue 4, p907
- ISSN
0939-5555
- Publication type
Letter
- DOI
10.1007/s00277-021-04678-7