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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L. Ruaud L, et al. Among authors: boucher brischoux e. Hum Mutat. 2018 Aug;39(8):1076-1080. doi: 10.1002/humu.23554. Epub 2018 Jun 4. Hum Mutat. 2018. PMID: 29782060 Free PMC article.