Associated Papers
Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.
Papasavva PL et al.
Frontiers in Genetics, 2024
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2014
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
Song MJ et al.
Pediatric Blood & Cancer, 2010
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
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