A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry-Reference-Cited by-同舟云学术

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Published:2017-10-18 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Papa Riccardo^ORCID, ,Doglio Matteo,Lachmann Helen J.,Ozen Seza,Frenkel Joost,Simon Anna,Neven Bénédicte,Kuemmerle-Deschner Jasmin,Ozgodan Huri,Caorsi Roberta,Federici Silvia,Finetti Martina,Trachana Maria,Brunner Jurgen,Bezrodnik Liliana,Pinedo Gago Mari Carmen,Maggio Maria Cristina,Tsitsami Elena,Al Suwairi Wafaa,Espada Graciela,Shcherbina Anna,Aksu Guzide,Ruperto Nicolino,Martini Alberto,Ceccherini Isabella,Gattorno Marco

Funder

Executive Agency for Health and Consumers

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0720-3.pdf

Reference15 articles.

1. Gattorno M, Caorsi R, Meini A, et al. Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatr. 2009;124:e721–8.

2. Milhavet F, Cuisset L, Hoffman HM, et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008;29(6):803–8.

3. Ozen S, Frenkel J, Ruperto N, Gattorno M. The Eurofever project: towards better care for autoinflammatory diseases. Eur J Pediatr. 2011;170:445–52.