Article info
Phenotypes
Short report
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
- Correspondence to Dr Adela Chirita-Emandi, Genetics, Universitatea de Medicina si Farmacie Victor Babes din Timisoara, Timisoara 300041, Romania; adela.chirita{at}umft.ro
Citation
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
Publication history
- Received May 22, 2020
- Revised July 13, 2020
- Accepted July 14, 2020
- First published August 25, 2020.
Online issue publication
August 20, 2021
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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.