Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I-Reference-Cited by-同舟云学术

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

Published:2021-09-03 Issue:1 Volume:61 Page:10-21
ISSN:1045-2257
Container-title:Genes, Chromosomes and Cancer
language:en
Short-container-title:Genes Chromosomes Cancer

Author:

Riva Matteo¹,Martorana Davide²,Uliana Vera²,Caleffi Edoardo³,Boschi Elena³,Garavelli Livia⁴,Ponti Giovanni⁵,Sangiorgi Luca⁶,Graziano Claudio⁷,Bigoni Stefania⁸,Rocchetti Luca Maria⁹,Madeo Simona¹⁰,Soli Fiorenza¹¹,Grosso Enrico¹²,Carli Diana¹³,Goldoni Matteo¹⁴,Pisani Francesco¹⁵,Percesepe Antonio¹²^ORCID

Affiliation:

1. Medical Genetics, Department of Medicine and Surgery University of Parma Parma Italy

2. University Hospital of Parma Parma Italy

3. Plastic Surgery, University Hospital of Parma Parma Italy

4. Medical Genetics Unit, Azienda USL‐IRCCS Reggio Emilia Italy

5. Division of Clinical Pathology University of Modena and Reggio Emilia Modena Italy

6. Medical Genetics and Skeletal Rare Diseases, Istituto Ortopedico Rizzoli Bologna Italy

7. Medical Genetics, S. Orsola‐Malpighi University Hospital Bologna Italy

8. Medical Genetics, Ferrara University Hospital Ferrara Italy

9. Medical Genetics, Maurizio Bufalini Hospital Cesena Italy

10. Pediatrics, University Hospital of Modena Italy

11. Medical Genetics, Santa Chiara Hospital Trento Italy

12. Medical Genetics, Città della Salute e della Scienza University Hospital Torino Italy

13. Department of Public Health and Pediatric Sciences University of Torino Torino Italy

14. Statistics, Department of Medicine and Surgery University of Parma Parma Italy

15. Children's Neuropsycological Services, Department of Medicine and Surgery University of Parma Parma Italy

Publisher

Wiley

Subject

Cancer Research,Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.22997

Reference51 articles.

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4. NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

5. The clinical and diagnostic implications mosaicism in the neurofibromatoses

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