PhenomeGene — Human Disease Gene Website SeriesDUX4

Publications

Hamanaka K et al. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020;94(23):e2441-7. PMID: 32467133.

Le Gall L et al. Therapeutic Strategies Targeting DUX4 in FSHD.J Clin Med. 2020;9(9):2886. PMID: 32906621.

Lemmers RJLF et al. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene. J Med Genet. 2021:jmedgenet-2020-107041. PMID: 33436523.