The study aims to broaden the knowledge of the various phenotypes related to DNAJC21-associated bone marrow failure syndrome.
Conducted a retrospective analysis of patient cases
Assessed clinical features and genetic testing results
Reviewed historical medical records for phenotype characterization
Identified new phenotypic presentations in patients with DNAJC21 mutations
Demonstrated variability in symptoms and severity among patients
Contributed to a better understanding of the diverse effects of DNAJC21 mutations
Abstract
The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
KI fragen
Like
Bookmark
Share
View Full Paper
KI fragen
Like
Bookmark
Share
View Full Paper
Expanding the phenotypic spectrum of DNAJC21 ‐associated bone marrow failure syndrome: A single‐centre experience | Synapse