The DOI matches its Crossref record.
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry
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DBA is a dominant Minute-like condition characterized by growth impairment, bone marrow failure, and congenital malformations with a high penetrance of CHD (~30%).
“a dominant Minute-like condition characterized by growth impairment, bone marrow failure, and congenital malformations with a high penetrance of CHD (~ 30%) [49, 50].”
From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [50]
The paper’s main text (page unavailable) describes DBA as a bone marrow failure syndrome with growth failure and birth defects, and says ribosomal-protein-associated DBA has autosomal dominant inheritance. It does not describe DBA as “Minute-like.” More importantly, its ~30% figure is the proportion of congenital anomalies that are CHD, not CHD penetrance among people with DBA; the registry reports CHD in 14.9% of DBA patients. (LLM, conf=0.93)
Experimental — accuracy not yet measuredMutations in human ribosomal proteins, including RPS24, cause Diamond-Blackfan anemia (DBA).
“mutations in human ribosomal proteins (including RPS24) cause Diamond-Blackfan anemia (DBA, RPS24 is DBA3 MIM:610629)”
From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [50]
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Research works printed but not linked: 5
- 10.1586/17474086.2014.897923 · DOI · Paper page
- 10.1182/blood-2017-06-789131 · DOI
- 10.1016/j.jpeds.2008.05.059 · DOI · Paper page
- 10.1111/bjh.12167 · DOI
- 10.1161/CIRCRESAHA.112.300853 · DOI
Cited by
Sorted by citations
The Genetic Landscape of Diamond-Blackfan Anemia
Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.027 · Cited by 272
Self-citationNim, H. T., Dang, L., Thiyagarajah, H., Bakopoulos, D., See, M., Charitakis, N., Sibbritt, T., Eichenlaub, M. P., Archer, S. K., Fossat, N., et al. (2021) · Genome Biology · doi:10.1186/s13059-021-02539-0 · Cited by 11
Metadata
- Authors
- Vlachos, A., Osorio, D. S., Atsidaftos, E., Kang, J., Lababidi, M. L., Seiden, H. S., Gruber, D., Glader, B. E., Onel, K., Farrar, J. E., Bodine, D. M., Aspesi, A., Dianzani, I., Ramenghi, U., Ellis, S. R., & Lipton, J. M.
- Venue
- Circulation: Genomic and Precision Medicine
- Published
- 2018-05
- Volume
- 11
- Issue
- 5
- ISSN
- 2574-8300
- PMC
- PMC5951415
- Cited by
- 40
- References
- 0
- Language
- en
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