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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Journal article
Authors G. I. Rice
S. Park
F. Gavazzi
L. A. Adang
L. A. Ayuk
L. Van Eyck
L. Seabra
C. Barrea
R. Battini
A. Belot
S. Berg
T. B. de Villemeur
A. E. Bley
L. Blumkin
O. Boespflug-Tanguy
T. A. Briggs
E. Brimble
R. C. Dale
Niklas Darin
F. G. Debray
V. De Giorgis
J. Denecke
D. Doummar
G. D. af Hagelsrum
D. Eleftheriou
M. Estienne
E. Fazzi
F. Feillet
J. Galli
N. Hartog
J. Harvengt
B. Heron
D. Heron
D. A. Kelly
D. Lev
V. Levrat
J. H. Livingston
I. Marti
C. Mignot
F. Mochel
M. C. Nougues
I. Oppermann
B. Perez-Duenas
B. Popp
M. P. Rodero
D. Rodriguez
V. Saletti
C. Sharpe
D. Tonduti
G. Vadlamani
K. Van Haren
M. T. Vila
J. Vogt
E. Wassmer
A. Wiedemann
C. J. Wilson
A. Zerem
C. Zweier
S. M. Zuberi
S. Orcesi
A. L. Vanderver
S. Hur
Y. J. Crow
Published in Human Mutation
Pages 13
ISSN 1059-7794
Publication year 2020
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 13
Language en
Links dx.doi.org/10.1002/humu.23975
Keywords Aicardi-Goutieres syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type, I interferonopathy, aicardi-goutieres syndrome, singleton-merten syndrome, function, mutation, disease, Genetics & Heredity
Subject categories Clinical Medicine

Abstract

IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a

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