GNA11 ‐mutated Sturge–Weber syndrome has distinct neurological and dermatological features

Author:

Dompmartin Anne1ORCID,van der Vleuten Carine J. M.2ORCID,Dekeuleneer Valérie3ORCID,Duprez Thierry4ORCID,Revencu Nicole5ORCID,Désir Julie6ORCID,te Loo D. Maroeska W. M.7ORCID,Flucke Uta8ORCID,Eijkelenboom Astrid8ORCID,Schultze Kool Leo9ORCID,Vikkula Miikka10ORCID,Boon Laurence3ORCID

Affiliation:

1. Service Dermatologie CHU Université Caen Normandie Caen France

2. Dermatology & Center for Vascular Anomalies University Medical Center Nijmegen Nijmegen The Netherlands

3. Division of Plastic Surgery Cliniques Universitaires Saint‐Luc, Center for Vascular Anomalies Brussels Belgium

4. Radiology Cliniques universitaires Saint‐Luc Brussels Belgium

5. Human Genetics Cliniques universitaires Saint‐Luc Brussels Belgium

6. Erasmus Hospital Human Genetics Brussels Belgium

7. Radboudumc Pediatric Haematology & Center Vascular Anomalies Nijmegen The Netherlands

8. Radboudumc Pathology & Center for Vascular Anomalies Nijmegen The Netherlands

9. Radboudumc Radiology & Center for Vascular Anomalies Nijmegen The Netherlands

10. Human Molecular Genetics de Duve Institute, UCLouvain Brussels Belgium

Funder

Fonds De La Recherche Scientifique - FNRS

Koning Boudewijnstichting

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.;Seminars in Pediatric Neurology;2024-09

2. Sturge–Weber syndrome;QJM: An International Journal of Medicine;2024-08-28

3. Capillary malformations;Journal of Clinical Investigation;2024-04-15

4. Neurocutaneous Diseases: Diagnosis, Management, and Treatment;Journal of Clinical Medicine;2024-03-13

5. Updates in Genetic Testing for Head and Neck Vascular Anomalies;Oral and Maxillofacial Surgery Clinics of North America;2024-02

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