PITFALLS IN THE DIAGNOSTICS OF SAA/RCC: CAN WHOLE EXOME SEQUENCING LEAD US THE WAY?
Main Authors: | Wolfgang Novak, Alexandra Frohne, Susanne Karlhuber, Raúl Jimenez-Heredia, Leo Kager, Michael Dworzak, Kaan Boztug |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2023-12-01
|
Series: | EJC Paediatric Oncology |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2772610X23000843 |
Similar Items
-
IMMUNOSUPPRESSIVE THERAPY IN A PATIENT WITH SAA-like RCC AND GATA2 DEFICIENCY
by: D Kroiss, et al.
Published: (2023-12-01) -
Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor
by: Fiona Poyer, et al.
Published: (2022-06-01) -
A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes
by: Leo Kager, et al.
Published: (2024-01-01) -
PB2295: EVANS SYNDROME AND PHENOTYPIC HETEROGENEITY OF SASH3 GERMLINE LOSS-OF-FUNCTION MUTATIONS BEYOND X-LINKED IMMUNODEFICIENCY
by: J. Berner, et al.
Published: (2022-06-01) -
Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.
by: Claire Jumeau, et al.
Published: (2019-01-01)