Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings-Reference-Cited by-同舟云学术

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings

Published:2021-08-17 Issue:5 Volume:100 Page:563-572
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

D'Amico Alessandra¹²,Rosano Carmen³,Pannone Luca⁴,Pinna Valentina⁵,Assunto Antonia³,Motta Marialetizia⁴,Ugga Lorenzo¹²,Daniele Paola⁵,Mandile Roberta³,Mariniello Lucio³,Siano Maria Anna⁶,Santoro Claudia⁷^ORCID,Piluso Giulio⁸^ORCID,Martinelli Simone⁹,Strisciuglio Pietro³,De Luca Alessandro⁵^ORCID,Tartaglia Marco⁴^ORCID,Melis Daniela³⁶^ORCID

Affiliation:

1. Department of Advanced Biomedical Sciences University of Naples “Federico II” Naples Italy

2. Tortorella Private Hospital Salerno Italy

3. Translational Medical Sciences Department University of Naples “Federico II” Naples Italy

4. Genetics and Rare Diseases Research Division Pediatric Hospital Bambino Gesù, IRCCS Rome Italy

5. Medical Genetics Division Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo Foggia Italy

6. Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana” Salerno Italy

7. Referral Centre of Neurofibromatosis, Department of Woman and Child, Specialistic and General Surgery University of Campania “Luigi Vanvitelli” Naples Italy

8. Department of Precision Medicine University of Campania “Luigi Vanvitelli” Naples Italy

9. Department of Oncology and Molecular Medicine Istituto Superiore di Sanità Rome Italy

Funder

Associazione Italiana per la Ricerca sul Cancro

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14040

Reference45 articles.

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5. Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome

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