Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL 11: too late and too rare-Reference-Cited by-同舟云学术

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Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL 11: too late and too rare

Published:2015-04-09 Issue:6 Volume:3 Page:392-395
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Flores Ballester Elena¹,Gil‐Fernández Juan José¹,Vázquez Blanco Miguel²,Mesa José M.³,Dios García Juan³,Tamayo Ana T.¹,Burgaleta Carmen¹

Affiliation:

1. Department of Hematology Hospital Universitario Príncipe de Asturias Alcalá de Henares Madrid Spain

2. Department of Ophthalmology Hospital Universitario Príncipe de Asturias Alcalá de Henares Madrid Spain

3. Department of Genetics Hospital Universitario Príncipe de Asturias Alcalá de Henares Madrid Spain

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.240

Reference8 articles.

1. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

2. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

3. How I treat Diamond-Blackfan anemia

4. Diamond-Blackfan syndrome in adult patients

5. Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Клинический профиль взрослых пациентов с синдромами врожденной костномозговой недостаточности: результаты амбиспективного клинического одноцентрового исследования;Clinical Oncohematology;2024-07-01

2. Inherited Bone Marrow Failure Syndromes;Comprehensive Hematology and Stem Cell Research;2024

3. Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation;Annals of Hematology;2023-11-23

4. Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia;Leukemia;2023-11-16

5. A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature;Medicina;2023-11-05

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