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

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

Abstract Background Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http:...

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Main Authors: Riccardo Papa, Matteo Doglio, Helen J. Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno, for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary recurrent fevers
FMF
Caps
Traps
MKD
Infevers
Online Access:http://link.springer.com/article/10.1186/s13023-017-0720-3

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

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