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  • Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

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Phenotypes
Short report
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

Authors

  • Adela Chirita-Emandi Department of Microscopic Morphology - Genetics, Center of Genomic Medicine, Victor Babes University of Medicine and Pharmacy Timisoara, Timisoara, Romania Regional Center of Medical Genetics Timis, Genetics, Emergency Hospital for Children Louis Turcanu Timisoara, Timisoara, Romania PubMed articlesGoogle scholar articles
  • Nicoleta Andreescu Department of Microscopic Morphology - Genetics, Center of Genomic Medicine, Victor Babes University of Medicine and Pharmacy Timisoara, Timisoara, Romania Regional Center of Medical Genetics Timis, Genetics, Emergency Hospital for Children Louis Turcanu Timisoara, Timisoara, Romania PubMed articlesGoogle scholar articles
  • Cristina Popa Department of Microscopic Morphology - Genetics, Center of Genomic Medicine, Victor Babes University of Medicine and Pharmacy Timisoara, Timisoara, Romania PubMed articlesGoogle scholar articles
  • Alexandra Mihailescu Department of Microscopic Morphology - Genetics, Center of Genomic Medicine, Victor Babes University of Medicine and Pharmacy Timisoara, Timisoara, Romania PubMed articlesGoogle scholar articles
  • Anca-Lelia Riza Human Genomics Laboratory, Genetics, University of Medicine and Pharmacy of Craiova, Craiova, Romania Regional Center of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, Craiova, Romania PubMed articlesGoogle scholar articles
  • Razvan Plesea Human Genomics Laboratory, Genetics, University of Medicine and Pharmacy of Craiova, Craiova, Romania Regional Center of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, Craiova, Romania PubMed articlesGoogle scholar articles
  • Mihai Ioana Human Genomics Laboratory, Genetics, University of Medicine and Pharmacy of Craiova, Craiova, Romania Regional Center of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, Craiova, Romania PubMed articlesGoogle scholar articles
  • Smaranda Arghirescu Pediatric Department – Pediatric Discipline III, Victor Babes University of Medicine and Pharmacy Timisoara, Timisoara, Timis, Romania Onco-Hematology Department, Emergency Hospital for Children Louis Turcanu Timisoara, Timisoara, Timis, Romania PubMed articlesGoogle scholar articles
  • Maria Puiu Department of Microscopic Morphology - Genetics, Center of Genomic Medicine, Victor Babes University of Medicine and Pharmacy Timisoara, Timisoara, Romania Regional Center of Medical Genetics Timis, Genetics, Emergency Hospital for Children Louis Turcanu Timisoara, Timisoara, Romania PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Adela Chirita-Emandi, Genetics, Universitatea de Medicina si Farmacie Victor Babes din Timisoara, Timisoara 300041, Romania; adela.chirita{at}umft.ro
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Citation

Chirita-Emandi A, Andreescu N, Popa C, et al
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
Journal of Medical Genetics 2021;58:648-652.

Publication history

  • Received May 22, 2020
  • Revised July 13, 2020
  • Accepted July 14, 2020
  • First published August 25, 2020.
Online issue publication 
January 08, 2022

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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/.