Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
- PMID: 37124624
- PMCID: PMC10131078
- DOI: 10.3389/fgene.2023.1194788
Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
Keywords: RPL10; T-ALL leukemia; X-linked dyskeratosis congenita; diamond blackfan anaemia; rare disease; ribosome biogenesis; ribosomopathy; shwachman diamond syndrome.
Conflict of interest statement
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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- Editorial on the Research Topic Inherited and acquired ribosomopathies: missing puzzle pieces
References
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- Morini J., Nacci L., Babini G., Cesaro S., Valli R., Ottolenghi A., et al. (2019). Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. Br. J. Haematol. 185 (3), 627–630. - PubMed
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