First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita

Br J Haematol. 2022 Feb;196(4):e27-e29. doi: 10.1111/bjh.17883. Epub 2021 Oct 14.

Authors

Tylan Magnusson¹, Richard C Godby¹, Kimo Bachiashvili², Omer Jamy²

Affiliations

¹ Division of General Internal Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
² Division of Hematology Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.

PMID: 34649303
DOI: 10.1111/bjh.17883

No abstract available

Keywords: WRAP53; chemotherapy; dyskeratosis congenita; heterozygous; myeloid neoplasm.

Publication types

Case Reports
Letter
Retracted Publication

MeSH terms

Adult
Dyskeratosis Congenita / genetics*
Heterozygote
Humans
Male
Mutation