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A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations.
Suzumoto Y, Columbano V, Gervasi L, Giunta R, Mattina T, Trimarchi G, Capolongo G, Simeoni M, Perna AF, Zacchia M, Toriello G, Pollastro RM, Rapisarda F, Capasso G, Trepiccione F. Suzumoto Y, et al. Among authors: giunta r. Intractable Rare Dis Res. 2021 May;10(2):95-101. doi: 10.5582/irdr.2020.03158. Intractable Rare Dis Res. 2021. PMID: 33996354 Free PMC article.
Correction: ESPRAS Survey: National and European Societies for Plastic Surgeons.
Giunta RE, Schaefer DJ, Demirdöver C, Di Benedetto G, Elander A, Zic R, Georgescu A, Henley M, Spendel S, Saboye J, Schultz I, Kneafsey B, Psaras G, Verstreken F, Stark B, Santanelli di Pompeo F, Kaartinen I, Ylä-Kotola T, Ahm Sørensen J, Gilis J, Rakhorst H, Aquilina D, Fradinho N, Foroglou P, Nunez-Villaveiran MT, Jeffers L, Karabeg R, Yankov D, Nürnberger T, Kuhlmann C. Giunta RE, et al. Handchir Mikrochir Plast Chir. 2024 Apr;56(2):e2. doi: 10.1055/a-2293-0922. Epub 2024 Apr 26. Handchir Mikrochir Plast Chir. 2024. PMID: 38670088 English. No abstract available.
374 results