Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation-Reference-Cited by-同舟云学术

Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Published:2018-11-20 Issue:5 Volume:185 Page:994-998
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Garelli Emanuela¹,Quarello Paola²,Giorgio Elisa³,Carando Adriana¹,Menegatti Elisa⁴⁵,Mancini Cecilia³,Di Gregorio Eleonora⁴,Crescenzio Nicoletta¹,Palumbo Orazio⁶,Carella Massimo⁶,Dimartino Paola⁷,Pippucci Tommaso⁸,Dianzani Irma⁹,Ramenghi Ugo¹,Brusco Alfredo³⁴^ORCID

Affiliation:

1. Department of Public Health and Paediatric Sciences University of TurinTurin Italy

2. Paediatric Onco‐Haematology Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's HospitalTurin Italy

3. Department of Medical Sciences University of TurinTurin Italy

4. Medical Genetics Unit “Città della Salute e della Scienza” HospitalTurin Italy

5. Department of Clinical and Biological Sciences University of Turin TurinItaly

6. Division of Medical Genetics IRCCS “Casa Sollievo della Sofferenza” San Giovanni RotondoItaly

7. Department of Medical and Surgical Sciences University of BolognaBologna Italy

8. Medical Genetics Unit Polyclinic Sant'Orsola‐Malpighi University Hospital Bologna Italy

9. Department of Health Sciences University of Eastern Piedmont Novara Italy

Funder

Fondazione Umberto Veronesi

Diamond Blackfan Anemia Foundation

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.15688

Reference10 articles.

1. Missense mutations associated with Diamond–Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome

2. A genomic view of mosaicism and human disease

3. An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia

4. Ribosomal protein gene deletions in Diamond-Blackfan anemia

5. Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia

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