Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3

Nagaraj, C. B., Brightman, D. S., Rea, H., Wakefield, E., Harkavy, N. V. G., Dyer, L., & Zhang, W. (2024). Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3. BMC Pediatrics, 24(1). https://doi.org/10.1186/s12887-023-04510-3
Authors:
Chinmayee B Nagaraj
Diana S Brightman
Hannah Rea
Emily Wakefield
Nina V G Harkavy
Lisa Dyer
Wenying Zhang
Affiliated Authors:
Nina V G Harkavy
Author Keywords:
deletion
diagnostic odyssey
familial hemophagocytic lymphohistiocytosis type 3
unc13d
Publication Type:
Article
Unique ID:
10.1186/s12887-023-04510-3
PMID:
Journal:
Publication Date:
Data Source:
PubMed

Record Created: