Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation-Reference-Cited by-同舟云学术

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Published:2019-06 Issue:6 Volume:180 Page:1438-1448
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Bessis D.¹²³^ORCID,Miquel J.⁴⁵,Bourrat E.⁶,Chiaverini C.⁷⁸^ORCID,Morice‐Picard F.⁹^ORCID,Abadie C.¹⁰¹¹,Manna F.²¹²,Baumann C.¹³¹⁴,Best M.¹²,Blanchet P.¹⁵,Bursztejn A.‐C.¹⁶¹⁷^ORCID,Capri Y.¹³¹⁴,Coubes C.¹⁵,Giuliano F.⁸¹⁸,Guillaumont S.²¹⁹,Hadj‐Rabia S.²⁰^ORCID,Jacquemont M.‐L.²¹,Jeandel C.²²²,Lacombe D.²³,Mallet S.²⁴²⁵,Mazereeuw‐Hautier J.²⁶²⁷,Molinari N.²¹²,Pallure V.²⁸,Pernet C.¹,Philip N.²⁵²⁹,Pinson L.¹⁵,Sarda P.¹⁵,Sigaudy S.²⁵²⁹,Vial Y.¹⁴³⁰,Willems M.¹⁵,Geneviève D.¹⁵³¹,Verloes A.¹³¹⁴,Cavé H.¹⁴³⁰

Affiliation:

1. Department of Dermatology Saint‐Eloi Hospital Competence Centre for Rare Skin Diseases MontpellierFrance

2. University of Montpellier MontpellierFrance

3. INSERM U1058 MontpellierFrance

4. Department of Paediatric Dermatology Femme‐Mère‐Enfant Hospital University of South Réunion Saint‐Pierre Réunion France

5. Department of Dermatology University of Rennes RennesFrance

6. Department of Paediatric Dermatology Robert‐Debré Hospital AP‐HP ParisFrance

7. Department of Dermatology L'Archet 2 Hospital NiceFrance

8. University of Nice NiceFrance

9. Department of Paediatric Dermatology Pellegrin University Hospital of Bordeaux BordeauxFrance

10. Department of Clinical Genetics Sud Hospital RennesFrance

11. University Hospital of Rennes RennesFrance

12. Department of Medical Information Epidemiological and Clinical Research Unit La Colombière Hospital MontpellierFrance

13. Department of Clinical Genetics Robert‐Debré Hospital AP‐HP ParisFrance

14. University of Paris‐Diderot Paris France

15. Department of Clinical Genetics Arnaud de Villeneuve Hospital MontpellierFrance

16. Department of Dermatology Brabois Hospital NancyFrance

17. University of Nancy NancyFrance

18. Department of Clinical Genetics L'Archet 2 Hospital NiceFrance

19. Department of Paediatric Cardiology Arnaud de Villeneuve Hospital MontpellierFrance

20. Department of Paediatric Dermatology Reference Centre for Rare Skin Diseases Necker‐Enfants Malades Hospital AP‐HP ParisFrance

21. Department of Clinical Genetics Femme‐Mère‐Enfant Hospital University of South Réunion Saint‐Pierre Réunion France

22. Department of Paediatric Endocrinology Arnaud de Villeneuve Hospital MontpellierFrance

23. Department of Clinical Genetics Pellegrin University Hospital of Bordeaux AP‐HP ParisFrance

24. Department of Dermatology La Timone Hospital AP‐HM MarseilleFrance

25. University of Marseille MarseilleFrance

26. Department of Dermatology Larrey Hospital Reference Centre for Rare Skin Diseases ToulouseFrance

27. University of Toulouse ToulouseFrance

28. Department of Dermatology CH Perpignan, PerpignanFrance

29. Department of Clinical Genetics La Timone Hospital AP‐HM MarseilleFrance

30. Department of Genetic Biochemistry Robert‐Debré Hospital AP‐HP ParisFrance

31. INSERM U1183 Montpellier France

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.17404

Reference60 articles.

1. Noonan syndrome

2. Noonan syndrome and clinically related disorders

3. Noonan syndrome

4. The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway

5. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

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