Ischemic stroke in a pediatric patient with very rare coexistence of sickle-cell/β-thalassemia and neurofibromatosis type 1
- PMID: 37057739
- DOI: 10.1002/pbc.30364
Ischemic stroke in a pediatric patient with very rare coexistence of sickle-cell/β-thalassemia and neurofibromatosis type 1
References
REFERENCES
-
- Notarangelo LD, Agostini A, Casale M, et al. HbS/β+ thalassemia: really a mild disease? A national survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation. Eur J Haematol. 2020;104(3):214-222.
-
- Evans DGR, Salvador H, Chang VY, et al. Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1. Clin Cancer Res. 2017;23(12):e46-e53.
-
- Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506-1513.
-
- National Center for Biotechnology Information. ClinVar; [VCV000068317.4] hwnnngcvVaS, 2020). National Center for Biotechnology Information. Accessed February 28, 2023. https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000068317.4
-
- Fahsold R, Hoffmeyer S, Mischung C, et al. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet. 2000;66(3):790-818.
Publication types
LinkOut - more resources
Full Text Sources
Research Materials