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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Orphanet J Rare Dis. 2023 Sep 4;18(1):269. doi: 10.1186/s13023-023-02891-3.
Orphanet J Rare Dis. 2023.
PMID: 37667351
Free PMC article.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE.
Shashi V, et al.
Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13.
Genet Med. 2023.
PMID: 37191094
Free PMC article.
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