The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Tibbe D, Kiel C, Ielesicheva O, Robles de Maruri K, Mahboobi H, Züghart J, Hönck HH, Meier C, Biasella F, Legüe M, Lopez Avaria MF, Blair E, Lester T, Banos-Pinero B, Pulido JS, Schneider A, Procopio R, Quelin C, Leal BJ, Martinez-Agosto JA, Bottomley SA, Till Á, Hadzsiev K, Szalai R, Weaver KN, Fluss J, Margot H, Almoguera B, Lorda-Sánchez I, López-López L, Hamm JA, Goel H, Alanay Y, Akgun Doğan O, Ozkose-Iyigel GŞ, Baujat G, Lesieur-Sebellin M, Rondeau S, Schon K, Christopher J, Isidor B, Cogne B, Agrawal NS, Dahlhauser R, Furuta Y, Rabin R, Pappas J, Patel C, Järvelä I, Rauhala M, Schrauwen I, Leal SM, Banka S, Tharakan R, Pebrel-Richard C, Laffargue F, Durand N, Celse T, Hempel M, Valentin I, Gregorova A, Noskova L, Baumgartner S, Überbacher C, Muru K, Murumets Ü, Lilles S, Steindl K, Rauch A, Ruscitti F, Verloes A, Levy J, Park J, Haack TB, Bader I, Julia S, Banneau G, Muir AM, Lessel D, Kreienkamp HJ.
Tibbe D, et al. Among authors: szalai r.
Genome Med. 2026 Aug 22;18(1):125. doi: 10.1186/s13073-026-01745-4.
Genome Med. 2026.
PMID: 42638108
Free PMC article.
